Canonical Allele Identifier: CA343774284

Gene: SERPINC1

Linked Data

• COSMIC: COSM5559241
• MyVariant Identifiers: chr1:g.173878931C>A (hg19) ; chr1:g.173909793C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909793C>A , CM000663.2:g.173909793C>A	GRCh38
NC_000001.10:g.173878931C>A , CM000663.1:g.173878931C>A	GRCh37
NC_000001.9:g.172145554C>A	NCBI36
NG_012462.1:g.12586G>T , LRG_577:g.12586G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.912G>T MANE Select	ENSP00000356671.3:p.Leu304Phe
ENST00000367698.3:c.912G>T	ENSP00000356671.3:p.Leu304Phe
ENST00000487183.1:n.563G>T
ENST00000617423.4:c.559+2071G>T	ENSP00000478688.1:n.559+2071G>T
NM_000488.3:c.912G>T , LRG_577t1:c.912G>T	NP_000479.1:p.Leu304Phe
XM_005245198.2:c.768G>T	XP_005245255.1:p.Leu256Phe
NM_001365052.1:c.768G>T	NP_001351981.1:p.Leu256Phe
NM_000488.4:c.912G>T MANE Select	NP_000479.1:p.Leu304Phe
NM_001365052.2:c.768G>T	NP_001351981.1:p.Leu256Phe
NM_001386302.1:c.1035G>T	NP_001373231.1:p.Leu345Phe
NM_001386303.1:c.993G>T	NP_001373232.1:p.Leu331Phe
NM_001386304.1:c.891G>T	NP_001373233.1:p.Leu297Phe
NM_001386305.1:c.855G>T	NP_001373234.1:p.Leu285Phe
NM_001386306.1:c.696G>T	NP_001373235.1:p.Leu232Phe