Canonical Allele Identifier: CA343774342

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878945G>A (hg19) ; chr1:g.173909807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909807G>A , CM000663.2:g.173909807G>A	GRCh38
NC_000001.10:g.173878945G>A , CM000663.1:g.173878945G>A	GRCh37
NC_000001.9:g.172145568G>A	NCBI36
NG_012462.1:g.12572C>T , LRG_577:g.12572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.898C>T MANE Select	ENSP00000356671.3:p.Gln300Ter
ENST00000367698.3:c.898C>T	ENSP00000356671.3:p.Gln300Ter
ENST00000487183.1:n.549C>T
ENST00000617423.4:c.559+2057C>T	ENSP00000478688.1:n.559+2057C>T
NM_000488.3:c.898C>T , LRG_577t1:c.898C>T	NP_000479.1:p.Gln300Ter
XM_005245198.2:c.754C>T	XP_005245255.1:p.Gln252Ter
NM_001365052.1:c.754C>T	NP_001351981.1:p.Gln252Ter
NM_000488.4:c.898C>T MANE Select	NP_000479.1:p.Gln300Ter
NM_001365052.2:c.754C>T	NP_001351981.1:p.Gln252Ter
NM_001386302.1:c.1021C>T	NP_001373231.1:p.Gln341Ter
NM_001386303.1:c.979C>T	NP_001373232.1:p.Gln327Ter
NM_001386304.1:c.877C>T	NP_001373233.1:p.Gln293Ter
NM_001386305.1:c.841C>T	NP_001373234.1:p.Gln281Ter
NM_001386306.1:c.682C>T	NP_001373235.1:p.Gln228Ter