Canonical Allele Identifier: CA390848293

Gene: SERPINA1

Linked Data

• MyVariant Identifiers: chr14:g.94847206A>C (hg19) ; chr14:g.94380869A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.94380869A>C , CM000676.2:g.94380869A>C	GRCh38
NC_000014.8:g.94847206A>C , CM000676.1:g.94847206A>C	GRCh37
NC_000014.7:g.93916959A>C	NCBI36
NG_008290.1:g.14824T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393087.9:c.917+2T>G MANE Select	ENSP00000376802.4:n.917+2T>G
ENST00000636712.1:c.917+2T>G	ENSP00000490054.1:n.917+2T>G
ENST00000355814.8:c.917+2T>G	ENSP00000348068.4:n.917+2T>G
ENST00000393087.8:c.917+2T>G	ENSP00000376802.4:n.917+2T>G
ENST00000393088.8:c.917+2T>G	ENSP00000376803.4:n.917+2T>G
ENST00000402629.1:c.917+2T>G	ENSP00000386094.1:n.917+2T>G
ENST00000404814.8:c.917+2T>G	ENSP00000385960.4:n.917+2T>G
ENST00000437397.5:c.917+2T>G	ENSP00000408474.1:n.917+2T>G
ENST00000440909.5:c.917+2T>G	ENSP00000390299.1:n.917+2T>G
ENST00000448921.5:c.917+2T>G	ENSP00000416066.1:n.917+2T>G
ENST00000449399.7:c.917+2T>G	ENSP00000416354.3:n.917+2T>G
ENST00000489769.1:c.919T>G	ENSP00000451525.1:p.Ter307Gly
NM_000295.4:c.917+2T>G	NP_000286.3:n.917+2T>G
NM_001002235.2:c.917+2T>G	NP_001002235.1:n.917+2T>G
NM_001002236.2:c.917+2T>G	NP_001002236.1:n.917+2T>G
NM_001127700.1:c.917+2T>G	NP_001121172.1:n.917+2T>G
NM_001127701.1:c.917+2T>G	NP_001121173.1:n.917+2T>G
NM_001127702.1:c.917+2T>G	NP_001121174.1:n.917+2T>G
NM_001127703.1:c.917+2T>G	NP_001121175.1:n.917+2T>G
NM_001127704.1:c.917+2T>G	NP_001121176.1:n.917+2T>G
NM_001127705.1:c.917+2T>G	NP_001121177.1:n.917+2T>G
NM_001127706.1:c.917+2T>G	NP_001121178.1:n.917+2T>G
NM_001127707.1:c.917+2T>G	NP_001121179.1:n.917+2T>G
XM_017021370.1:c.917+2T>G	XP_016876859.1:n.917+2T>G
NM_000295.5:c.917+2T>G MANE Select	NP_000286.3:n.917+2T>G
NM_001002235.3:c.917+2T>G	NP_001002235.1:n.917+2T>G
NM_001002236.3:c.917+2T>G	NP_001002236.1:n.917+2T>G
NM_001127700.2:c.917+2T>G	NP_001121172.1:n.917+2T>G
NM_001127701.2:c.917+2T>G	NP_001121173.1:n.917+2T>G
NM_001127702.2:c.917+2T>G	NP_001121174.1:n.917+2T>G
NM_001127703.2:c.917+2T>G	NP_001121175.1:n.917+2T>G
NM_001127704.2:c.917+2T>G	NP_001121176.1:n.917+2T>G
NM_001127705.2:c.917+2T>G	NP_001121177.1:n.917+2T>G
NM_001127706.2:c.917+2T>G	NP_001121178.1:n.917+2T>G
NM_001127707.2:c.917+2T>G	NP_001121179.1:n.917+2T>G