Canonical Allele Identifier: CA343774157

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878900G>C (hg19) ; chr1:g.173909762G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909762G>C , CM000663.2:g.173909762G>C	GRCh38
NC_000001.10:g.173878900G>C , CM000663.1:g.173878900G>C	GRCh37
NC_000001.9:g.172145523G>C	NCBI36
NG_012462.1:g.12617C>G , LRG_577:g.12617C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.943C>G MANE Select	ENSP00000356671.3:p.Leu315Val
ENST00000367698.3:c.943C>G	ENSP00000356671.3:p.Leu315Val
ENST00000487183.1:n.594C>G
ENST00000617423.4:c.559+2102C>G	ENSP00000478688.1:n.559+2102C>G
NM_000488.3:c.943C>G , LRG_577t1:c.943C>G	NP_000479.1:p.Leu315Val
XM_005245198.2:c.799C>G	XP_005245255.1:p.Leu267Val
NM_001365052.1:c.799C>G	NP_001351981.1:p.Leu267Val
NM_000488.4:c.943C>G MANE Select	NP_000479.1:p.Leu315Val
NM_001365052.2:c.799C>G	NP_001351981.1:p.Leu267Val
NM_001386302.1:c.1066C>G	NP_001373231.1:p.Leu356Val
NM_001386303.1:c.1024C>G	NP_001373232.1:p.Leu342Val
NM_001386304.1:c.922C>G	NP_001373233.1:p.Leu308Val
NM_001386305.1:c.886C>G	NP_001373234.1:p.Leu296Val
NM_001386306.1:c.727C>G	NP_001373235.1:p.Leu243Val