Canonical Allele Identifier: CA343773490

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878705T>G (hg19) ; chr1:g.173909567T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909567T>G , CM000663.2:g.173909567T>G	GRCh38
NC_000001.10:g.173878705T>G , CM000663.1:g.173878705T>G	GRCh37
NC_000001.9:g.172145328T>G	NCBI36
NG_012462.1:g.12812A>C , LRG_577:g.12812A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1138A>C MANE Select	ENSP00000356671.3:p.Lys380Gln
ENST00000367698.3:c.1138A>C	ENSP00000356671.3:p.Lys380Gln
ENST00000617423.4:c.560-2074A>C	ENSP00000478688.1:n.560-2074A>C
NM_000488.3:c.1138A>C , LRG_577t1:c.1138A>C	NP_000479.1:p.Lys380Gln
XM_005245198.2:c.994A>C	XP_005245255.1:p.Lys332Gln
NM_001365052.1:c.994A>C	NP_001351981.1:p.Lys332Gln
NM_000488.4:c.1138A>C MANE Select	NP_000479.1:p.Lys380Gln
NM_001365052.2:c.994A>C	NP_001351981.1:p.Lys332Gln
NM_001386302.1:c.1261A>C	NP_001373231.1:p.Lys421Gln
NM_001386303.1:c.1219A>C	NP_001373232.1:p.Lys407Gln
NM_001386304.1:c.1117A>C	NP_001373233.1:p.Lys373Gln
NM_001386305.1:c.1081A>C	NP_001373234.1:p.Lys361Gln
NM_001386306.1:c.922A>C	NP_001373235.1:p.Lys308Gln