Human (GRCh37.p13)
Description

serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 [Source:HGNC Symbol;Acc:8941]

Gene Synonyms

A1A, A1AT, AAT, PI, PI1, PRO2275, alpha-1-antitrypsin, alpha1AT

Location

Chromosome 14: 94,843,084-94,857,030 reverse strand.

GRCh37:CM000676.1

About this gene

This gene has 19 transcripts (splice variants), 13 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000448921.1SERPINA1-2033532418aaENSP00000416066.1
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
NM_001127705.1GENCODE basic
ENST00000437397.1SERPINA1-2023340418aaENSP00000408474.1
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
NM_001127707.1GENCODE basic
ENST00000355814.4SERPINA1-2013236418aaENSP00000348068.4
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
NM_001127700.1GENCODE basic
ENST00000440909.1SERPINA1-0013144418aaENSP00000390299.1
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
-GENCODE basic
ENST00000393088.4SERPINA1-0021885418aaENSP00000376803.4
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
-GENCODE basic
ENST00000404814.4SERPINA1-0031628418aaENSP00000385960.4
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
-GENCODE basic
ENST00000393087.4SERPINA1-0041622418aaENSP00000376802.4
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
NM_000295.4GENCODE basic
ENST00000449399.3SERPINA1-0081559418aaENSP00000416354.3
 
Protein coding
CCDS9925A6YP93 E9KL23 G3V2B9
G3V387 G3V4I7 G3V544
G3V5R8 P01009 Q3I0J7
-GENCODE basic
ENST00000402629.1SERPINA1-0061450359aaENSP00000386094.1
 
Protein coding
A6YP93 G3V2B9 G3V387
G3V4I7 G3V544 G3V5R8
P01009 Q3I0J7
-GENCODE basic
ENST00000557492.1SERPINA1-007951144aaENSP00000452452.1
 
Protein coding
G3V387 G3V4I7 G3V5R8
-CDS 3' incomplete
ENST00000556091.1SERPINA1-017643156aaENSP00000452169.1
 
Protein coding
G3V387 G3V4I7 G3V544
G3V5R8
-CDS 3' incomplete
ENST00000557118.1SERPINA1-01058322aaENSP00000451826.1
 
Protein coding
G3V4I7 -CDS 3' incomplete
ENST00000553327.1SERPINA1-01558192aaENSP00000452480.1
 
Protein coding
G3V4I7 G3V5R8 -CDS 3' incomplete
ENST00000556955.1SERPINA1-011571117aaENSP00000451098.1
 
Protein coding
G3V387 G3V4I7 G3V5R8
-CDS 3' incomplete
ENST00000554720.1SERPINA1-016446105aaENSP00000450561.1
 
Protein coding
G3V2B9 -CDS 3' incomplete
ENST00000489769.1SERPINA1-0051562306aaENSP00000451525.1
 
Nonsense mediated decay
A6YP93 G3V2B9 G3V387
G3V4I7 G3V544 G3V5R8
P01009 Q3I0J7
--
ENST00000555289.1SERPINA1-014609No protein-
 
Processed transcript
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ENST00000557093.1SERPINA1-012568No protein-
 
Processed transcript
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ENST00000557361.1SERPINA1-013580No protein-
 
Retained intron
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