Canonical Allele Identifier: CA343774241

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878920C>A (hg19) ; chr1:g.173909782C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909782C>A , CM000663.2:g.173909782C>A	GRCh38
NC_000001.10:g.173878920C>A , CM000663.1:g.173878920C>A	GRCh37
NC_000001.9:g.172145543C>A	NCBI36
NG_012462.1:g.12597G>T , LRG_577:g.12597G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.923G>T MANE Select	ENSP00000356671.3:p.Gly308Val
ENST00000367698.3:c.923G>T	ENSP00000356671.3:p.Gly308Val
ENST00000487183.1:n.574G>T
ENST00000617423.4:c.559+2082G>T	ENSP00000478688.1:n.559+2082G>T
NM_000488.3:c.923G>T , LRG_577t1:c.923G>T	NP_000479.1:p.Gly308Val
XM_005245198.2:c.779G>T	XP_005245255.1:p.Gly260Val
NM_001365052.1:c.779G>T	NP_001351981.1:p.Gly260Val
NM_000488.4:c.923G>T MANE Select	NP_000479.1:p.Gly308Val
NM_001365052.2:c.779G>T	NP_001351981.1:p.Gly260Val
NM_001386302.1:c.1046G>T	NP_001373231.1:p.Gly349Val
NM_001386303.1:c.1004G>T	NP_001373232.1:p.Gly335Val
NM_001386304.1:c.902G>T	NP_001373233.1:p.Gly301Val
NM_001386305.1:c.866G>T	NP_001373234.1:p.Gly289Val
NM_001386306.1:c.707G>T	NP_001373235.1:p.Gly236Val