Canonical Allele Identifier: CA343773499

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878710G>A (hg19) ; chr1:g.173909572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909572G>A , CM000663.2:g.173909572G>A	GRCh38
NC_000001.10:g.173878710G>A , CM000663.1:g.173878710G>A	GRCh37
NC_000001.9:g.172145333G>A	NCBI36
NG_012462.1:g.12807C>T , LRG_577:g.12807C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.1133C>T MANE Select	ENSP00000356671.3:p.Pro378Leu
ENST00000367698.3:c.1133C>T	ENSP00000356671.3:p.Pro378Leu
ENST00000617423.4:c.560-2079C>T	ENSP00000478688.1:n.560-2079C>T
NM_000488.3:c.1133C>T , LRG_577t1:c.1133C>T	NP_000479.1:p.Pro378Leu
XM_005245198.2:c.989C>T	XP_005245255.1:p.Pro330Leu
NM_001365052.1:c.989C>T	NP_001351981.1:p.Pro330Leu
NM_000488.4:c.1133C>T MANE Select	NP_000479.1:p.Pro378Leu
NM_001365052.2:c.989C>T	NP_001351981.1:p.Pro330Leu
NM_001386302.1:c.1256C>T	NP_001373231.1:p.Pro419Leu
NM_001386303.1:c.1214C>T	NP_001373232.1:p.Pro405Leu
NM_001386304.1:c.1112C>T	NP_001373233.1:p.Pro371Leu
NM_001386305.1:c.1076C>T	NP_001373234.1:p.Pro359Leu
NM_001386306.1:c.917C>T	NP_001373235.1:p.Pro306Leu