Canonical Allele Identifier: CA343773958

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878852G>T (hg19) ; chr1:g.173909714G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909714G>T , CM000663.2:g.173909714G>T	GRCh38
NC_000001.10:g.173878852G>T , CM000663.1:g.173878852G>T	GRCh37
NC_000001.9:g.172145475G>T	NCBI36
NG_012462.1:g.12665C>A , LRG_577:g.12665C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.991C>A MANE Select	ENSP00000356671.3:p.Leu331Ile
ENST00000367698.3:c.991C>A	ENSP00000356671.3:p.Leu331Ile
ENST00000617423.4:c.559+2150C>A	ENSP00000478688.1:n.559+2150C>A
NM_000488.3:c.991C>A , LRG_577t1:c.991C>A	NP_000479.1:p.Leu331Ile
XM_005245198.2:c.847C>A	XP_005245255.1:p.Leu283Ile
NM_001365052.1:c.847C>A	NP_001351981.1:p.Leu283Ile
NM_000488.4:c.991C>A MANE Select	NP_000479.1:p.Leu331Ile
NM_001365052.2:c.847C>A	NP_001351981.1:p.Leu283Ile
NM_001386302.1:c.1114C>A	NP_001373231.1:p.Leu372Ile
NM_001386303.1:c.1072C>A	NP_001373232.1:p.Leu358Ile
NM_001386304.1:c.970C>A	NP_001373233.1:p.Leu324Ile
NM_001386305.1:c.934C>A	NP_001373234.1:p.Leu312Ile
NM_001386306.1:c.775C>A	NP_001373235.1:p.Leu259Ile