Canonical Allele Identifier: CA343778542

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173884036C>A (hg19) ; chr1:g.173914898C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173914898C>A , CM000663.2:g.173914898C>A	GRCh38
NC_000001.10:g.173884036C>A , CM000663.1:g.173884036C>A	GRCh37
NC_000001.9:g.172150659C>A	NCBI36
NG_012462.1:g.7481G>T , LRG_577:g.7481G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.63G>T MANE Select	ENSP00000356671.3:p.Leu21Phe
ENST00000367698.3:c.63G>T	ENSP00000356671.3:p.Leu21Phe
ENST00000494024.1:n.289G>T
ENST00000617423.4:c.63G>T	ENSP00000478688.1:p.Leu21Phe
NM_000488.3:c.63G>T , LRG_577t1:c.63G>T	NP_000479.1:p.Leu21Phe
XM_005245198.2:c.-82G>T	XP_005245255.1:n.-82G>T
NM_001365052.1:c.-82G>T	NP_001351981.1:n.-82G>T
NM_000488.4:c.63G>T MANE Select	NP_000479.1:p.Leu21Phe
NM_001365052.2:c.-82G>T	NP_001351981.1:n.-82G>T
NM_001386302.1:c.63G>T	NP_001373231.1:p.Leu21Phe
NM_001386303.1:c.144G>T	NP_001373232.1:p.Leu48Phe
NM_001386304.1:c.63G>T	NP_001373233.1:p.Leu21Phe
NM_001386305.1:c.63G>T	NP_001373234.1:p.Leu21Phe
NM_001386306.1:c.63G>T	NP_001373235.1:p.Leu21Phe