Canonical Allele Identifier: CA390849088
Gene: SERPINA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 440495
ClinVar RCV Id: RCV000508825
dbSNP Id: rs1555368744

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.94381124A>G , CM000676.2:g.94381124A>G GRCh38
NC_000014.8:g.94847461A>G , CM000676.1:g.94847461A>G GRCh37
NC_000014.7:g.93917214A>G NCBI36
NG_008290.1:g.14569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000393087.9:c.664T>C MANE Select ENSP00000376802.4:p.Phe222Leu
ENST00000636712.1:c.664T>C ENSP00000490054.1:p.Phe222Leu
ENST00000355814.8:c.664T>C ENSP00000348068.4:p.Phe222Leu
ENST00000393087.8:c.664T>C ENSP00000376802.4:p.Phe222Leu
ENST00000393088.8:c.664T>C ENSP00000376803.4:p.Phe222Leu
ENST00000402629.1:c.664T>C ENSP00000386094.1:p.Phe222Leu
ENST00000404814.8:c.664T>C ENSP00000385960.4:p.Phe222Leu
ENST00000437397.5:c.664T>C ENSP00000408474.1:p.Phe222Leu
ENST00000440909.5:c.664T>C ENSP00000390299.1:p.Phe222Leu
ENST00000448921.5:c.664T>C ENSP00000416066.1:p.Phe222Leu
ENST00000449399.7:c.664T>C ENSP00000416354.3:p.Phe222Leu
ENST00000489769.1:c.664T>C ENSP00000451525.1:p.Phe222Leu
NM_000295.4:c.664T>C NP_000286.3:p.Phe222Leu
NM_001002235.2:c.664T>C NP_001002235.1:p.Phe222Leu
NM_001002236.2:c.664T>C NP_001002236.1:p.Phe222Leu
NM_001127700.1:c.664T>C NP_001121172.1:p.Phe222Leu
NM_001127701.1:c.664T>C NP_001121173.1:p.Phe222Leu
NM_001127702.1:c.664T>C NP_001121174.1:p.Phe222Leu
NM_001127703.1:c.664T>C NP_001121175.1:p.Phe222Leu
NM_001127704.1:c.664T>C NP_001121176.1:p.Phe222Leu
NM_001127705.1:c.664T>C NP_001121177.1:p.Phe222Leu
NM_001127706.1:c.664T>C NP_001121178.1:p.Phe222Leu
NM_001127707.1:c.664T>C NP_001121179.1:p.Phe222Leu
XM_017021370.1:c.664T>C XP_016876859.1:p.Phe222Leu
NM_000295.5:c.664T>C MANE Select NP_000286.3:p.Phe222Leu
NM_001002235.3:c.664T>C NP_001002235.1:p.Phe222Leu
NM_001002236.3:c.664T>C NP_001002236.1:p.Phe222Leu
NM_001127700.2:c.664T>C NP_001121172.1:p.Phe222Leu
NM_001127701.2:c.664T>C NP_001121173.1:p.Phe222Leu
NM_001127702.2:c.664T>C NP_001121174.1:p.Phe222Leu
NM_001127703.2:c.664T>C NP_001121175.1:p.Phe222Leu
NM_001127704.2:c.664T>C NP_001121176.1:p.Phe222Leu
NM_001127705.2:c.664T>C NP_001121177.1:p.Phe222Leu
NM_001127706.2:c.664T>C NP_001121178.1:p.Phe222Leu
NM_001127707.2:c.664T>C NP_001121179.1:p.Phe222Leu