Canonical Allele Identifier: CA343774136

Gene: SERPINC1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.949T>A MANE Select	ENSP00000356671.3:p.Leu317Met
ENST00000367698.3:c.949T>A	ENSP00000356671.3:p.Leu317Met
ENST00000487183.1:n.600T>A
ENST00000617423.4:c.559+2108T>A	ENSP00000478688.1:n.559+2108T>A
NM_000488.3:c.949T>A , LRG_577t1:c.949T>A	NP_000479.1:p.Leu317Met
XM_005245198.2:c.805T>A	XP_005245255.1:p.Leu269Met
NM_001365052.1:c.805T>A	NP_001351981.1:p.Leu269Met
NM_000488.4:c.949T>A MANE Select	NP_000479.1:p.Leu317Met
NM_001365052.2:c.805T>A	NP_001351981.1:p.Leu269Met
NM_001386302.1:c.1072T>A	NP_001373231.1:p.Leu358Met
NM_001386303.1:c.1030T>A	NP_001373232.1:p.Leu344Met
NM_001386304.1:c.928T>A	NP_001373233.1:p.Leu310Met
NM_001386305.1:c.892T>A	NP_001373234.1:p.Leu298Met
NM_001386306.1:c.733T>A	NP_001373235.1:p.Leu245Met