Canonical Allele Identifier: CA343773496

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878708C>A (hg19) ; chr1:g.173909570C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909570C>A , CM000663.2:g.173909570C>A	GRCh38
NC_000001.10:g.173878708C>A , CM000663.1:g.173878708C>A	GRCh37
NC_000001.9:g.172145331C>A	NCBI36
NG_012462.1:g.12809G>T , LRG_577:g.12809G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1135G>T MANE Select	ENSP00000356671.3:p.Glu379Ter
ENST00000367698.3:c.1135G>T	ENSP00000356671.3:p.Glu379Ter
ENST00000617423.4:c.560-2077G>T	ENSP00000478688.1:n.560-2077G>T
NM_000488.3:c.1135G>T , LRG_577t1:c.1135G>T	NP_000479.1:p.Glu379Ter
XM_005245198.2:c.991G>T	XP_005245255.1:p.Glu331Ter
NM_001365052.1:c.991G>T	NP_001351981.1:p.Glu331Ter
NM_000488.4:c.1135G>T MANE Select	NP_000479.1:p.Glu379Ter
NM_001365052.2:c.991G>T	NP_001351981.1:p.Glu331Ter
NM_001386302.1:c.1258G>T	NP_001373231.1:p.Glu420Ter
NM_001386303.1:c.1216G>T	NP_001373232.1:p.Glu406Ter
NM_001386304.1:c.1114G>T	NP_001373233.1:p.Glu372Ter
NM_001386305.1:c.1078G>T	NP_001373234.1:p.Glu360Ter
NM_001386306.1:c.919G>T	NP_001373235.1:p.Glu307Ter