Canonical Allele Identifier: CA343774477

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878980C>A (hg19) ; chr1:g.173909842C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909842C>A , CM000663.2:g.173909842C>A	GRCh38
NC_000001.10:g.173878980C>A , CM000663.1:g.173878980C>A	GRCh37
NC_000001.9:g.172145603C>A	NCBI36
NG_012462.1:g.12537G>T , LRG_577:g.12537G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.863G>T MANE Select	ENSP00000356671.3:p.Gly288Val
ENST00000367698.3:c.863G>T	ENSP00000356671.3:p.Gly288Val
ENST00000487183.1:n.514G>T
ENST00000617423.4:c.559+2022G>T	ENSP00000478688.1:n.559+2022G>T
NM_000488.3:c.863G>T , LRG_577t1:c.863G>T	NP_000479.1:p.Gly288Val
XM_005245198.2:c.719G>T	XP_005245255.1:p.Gly240Val
NM_001365052.1:c.719G>T	NP_001351981.1:p.Gly240Val
NM_000488.4:c.863G>T MANE Select	NP_000479.1:p.Gly288Val
NM_001365052.2:c.719G>T	NP_001351981.1:p.Gly240Val
NM_001386302.1:c.986G>T	NP_001373231.1:p.Gly329Val
NM_001386303.1:c.944G>T	NP_001373232.1:p.Gly315Val
NM_001386304.1:c.842G>T	NP_001373233.1:p.Gly281Val
NM_001386305.1:c.806G>T	NP_001373234.1:p.Gly269Val
NM_001386306.1:c.647G>T	NP_001373235.1:p.Gly216Val