Canonical Allele Identifier: CA343774328

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878942C>G (hg19) ; chr1:g.173909804C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909804C>G , CM000663.2:g.173909804C>G	GRCh38
NC_000001.10:g.173878942C>G , CM000663.1:g.173878942C>G	GRCh37
NC_000001.9:g.172145565C>G	NCBI36
NG_012462.1:g.12575G>C , LRG_577:g.12575G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.901G>C MANE Select	ENSP00000356671.3:p.Val301Leu
ENST00000367698.3:c.901G>C	ENSP00000356671.3:p.Val301Leu
ENST00000487183.1:n.552G>C
ENST00000617423.4:c.559+2060G>C	ENSP00000478688.1:n.559+2060G>C
NM_000488.3:c.901G>C , LRG_577t1:c.901G>C	NP_000479.1:p.Val301Leu
XM_005245198.2:c.757G>C	XP_005245255.1:p.Val253Leu
NM_001365052.1:c.757G>C	NP_001351981.1:p.Val253Leu
NM_000488.4:c.901G>C MANE Select	NP_000479.1:p.Val301Leu
NM_001365052.2:c.757G>C	NP_001351981.1:p.Val253Leu
NM_001386302.1:c.1024G>C	NP_001373231.1:p.Val342Leu
NM_001386303.1:c.982G>C	NP_001373232.1:p.Val328Leu
NM_001386304.1:c.880G>C	NP_001373233.1:p.Val294Leu
NM_001386305.1:c.844G>C	NP_001373234.1:p.Val282Leu
NM_001386306.1:c.685G>C	NP_001373235.1:p.Val229Leu