Canonical Allele Identifier: CA343773478

Gene: SERPINC1

Linked Data

• MyVariant Identifiers: chr1:g.173878701G>A (hg19) ; chr1:g.173909563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909563G>A , CM000663.2:g.173909563G>A	GRCh38
NC_000001.10:g.173878701G>A , CM000663.1:g.173878701G>A	GRCh37
NC_000001.9:g.172145324G>A	NCBI36
NG_012462.1:g.12816C>T , LRG_577:g.12816C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.1142C>T MANE Select	ENSP00000356671.3:p.Ser381Phe
ENST00000367698.3:c.1142C>T	ENSP00000356671.3:p.Ser381Phe
ENST00000617423.4:c.560-2070C>T	ENSP00000478688.1:n.560-2070C>T
NM_000488.3:c.1142C>T , LRG_577t1:c.1142C>T	NP_000479.1:p.Ser381Phe
XM_005245198.2:c.998C>T	XP_005245255.1:p.Ser333Phe
NM_001365052.1:c.998C>T	NP_001351981.1:p.Ser333Phe
NM_000488.4:c.1142C>T MANE Select	NP_000479.1:p.Ser381Phe
NM_001365052.2:c.998C>T	NP_001351981.1:p.Ser333Phe
NM_001386302.1:c.1265C>T	NP_001373231.1:p.Ser422Phe
NM_001386303.1:c.1223C>T	NP_001373232.1:p.Ser408Phe
NM_001386304.1:c.1121C>T	NP_001373233.1:p.Ser374Phe
NM_001386305.1:c.1085C>T	NP_001373234.1:p.Ser362Phe
NM_001386306.1:c.926C>T	NP_001373235.1:p.Ser309Phe