Canonical Allele Identifier: CA343774486

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909843-C-T
• COSMIC: COSM5844545
• MyVariant Identifiers: chr1:g.173878981C>T (hg19) ; chr1:g.173909843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909843C>T , CM000663.2:g.173909843C>T	GRCh38
NC_000001.10:g.173878981C>T , CM000663.1:g.173878981C>T	GRCh37
NC_000001.9:g.172145604C>T	NCBI36
NG_012462.1:g.12536G>A , LRG_577:g.12536G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.862G>A MANE Select	ENSP00000356671.3:p.Gly288Ser
ENST00000367698.3:c.862G>A	ENSP00000356671.3:p.Gly288Ser
ENST00000487183.1:n.513G>A
ENST00000617423.4:c.559+2021G>A	ENSP00000478688.1:n.559+2021G>A
NM_000488.3:c.862G>A , LRG_577t1:c.862G>A	NP_000479.1:p.Gly288Ser
XM_005245198.2:c.718G>A	XP_005245255.1:p.Gly240Ser
NM_001365052.1:c.718G>A	NP_001351981.1:p.Gly240Ser
NM_000488.4:c.862G>A MANE Select	NP_000479.1:p.Gly288Ser
NM_001365052.2:c.718G>A	NP_001351981.1:p.Gly240Ser
NM_001386302.1:c.985G>A	NP_001373231.1:p.Gly329Ser
NM_001386303.1:c.943G>A	NP_001373232.1:p.Gly315Ser
NM_001386304.1:c.841G>A	NP_001373233.1:p.Gly281Ser
NM_001386305.1:c.805G>A	NP_001373234.1:p.Gly269Ser
NM_001386306.1:c.646G>A	NP_001373235.1:p.Gly216Ser