Canonical Allele Identifier: CA343772081

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173873050C>G (hg19) ; chr1:g.173903912C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173903912C>G , CM000663.2:g.173903912C>G	GRCh38
NC_000001.10:g.173873050C>G , CM000663.1:g.173873050C>G	GRCh37
NC_000001.9:g.172139673C>G	NCBI36
NG_012462.1:g.18467G>C , LRG_577:g.18467G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1372G>C MANE Select	ENSP00000356671.3:p.Val458Leu
ENST00000367698.3:c.1372G>C	ENSP00000356671.3:p.Val458Leu
ENST00000617423.4:c.757G>C	ENSP00000478688.1:p.Val253Leu
NM_000488.3:c.1372G>C , LRG_577t1:c.1372G>C	NP_000479.1:p.Val458Leu
XM_005245198.2:c.1228G>C	XP_005245255.1:p.Val410Leu
NM_001365052.1:c.1228G>C	NP_001351981.1:p.Val410Leu
NM_000488.4:c.1372G>C MANE Select	NP_000479.1:p.Val458Leu
NM_001365052.2:c.1228G>C	NP_001351981.1:p.Val410Leu
NM_001386302.1:c.1495G>C	NP_001373231.1:p.Val499Leu
NM_001386303.1:c.1453G>C	NP_001373232.1:p.Val485Leu
NM_001386304.1:c.1351G>C	NP_001373233.1:p.Val451Leu
NM_001386305.1:c.1315G>C	NP_001373234.1:p.Val439Leu
NM_001386306.1:c.1156G>C	NP_001373235.1:p.Val386Leu