Canonical Allele Identifier: CA343774135

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878894A>C (hg19) ; chr1:g.173909756A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909756A>C , CM000663.2:g.173909756A>C	GRCh38
NC_000001.10:g.173878894A>C , CM000663.1:g.173878894A>C	GRCh37
NC_000001.9:g.172145517A>C	NCBI36
NG_012462.1:g.12623T>G , LRG_577:g.12623T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.949T>G MANE Select	ENSP00000356671.3:p.Leu317Val
ENST00000367698.3:c.949T>G	ENSP00000356671.3:p.Leu317Val
ENST00000487183.1:n.600T>G
ENST00000617423.4:c.559+2108T>G	ENSP00000478688.1:n.559+2108T>G
NM_000488.3:c.949T>G , LRG_577t1:c.949T>G	NP_000479.1:p.Leu317Val
XM_005245198.2:c.805T>G	XP_005245255.1:p.Leu269Val
NM_001365052.1:c.805T>G	NP_001351981.1:p.Leu269Val
NM_000488.4:c.949T>G MANE Select	NP_000479.1:p.Leu317Val
NM_001365052.2:c.805T>G	NP_001351981.1:p.Leu269Val
NM_001386302.1:c.1072T>G	NP_001373231.1:p.Leu358Val
NM_001386303.1:c.1030T>G	NP_001373232.1:p.Leu344Val
NM_001386304.1:c.928T>G	NP_001373233.1:p.Leu310Val
NM_001386305.1:c.892T>G	NP_001373234.1:p.Leu298Val
NM_001386306.1:c.733T>G	NP_001373235.1:p.Leu245Val