Canonical Allele Identifier: CA343774305

Gene: SERPINC1

Linked Data

• gnomAD v4: 1-173909798-C-T
• MyVariant Identifiers: chr1:g.173878936C>T (hg19) ; chr1:g.173909798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909798C>T , CM000663.2:g.173909798C>T	GRCh38
NC_000001.10:g.173878936C>T , CM000663.1:g.173878936C>T	GRCh37
NC_000001.9:g.172145559C>T	NCBI36
NG_012462.1:g.12581G>A , LRG_577:g.12581G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.907G>A MANE Select	ENSP00000356671.3:p.Glu303Lys
ENST00000367698.3:c.907G>A	ENSP00000356671.3:p.Glu303Lys
ENST00000487183.1:n.558G>A
ENST00000617423.4:c.559+2066G>A	ENSP00000478688.1:n.559+2066G>A
NM_000488.3:c.907G>A , LRG_577t1:c.907G>A	NP_000479.1:p.Glu303Lys
XM_005245198.2:c.763G>A	XP_005245255.1:p.Glu255Lys
NM_001365052.1:c.763G>A	NP_001351981.1:p.Glu255Lys
NM_000488.4:c.907G>A MANE Select	NP_000479.1:p.Glu303Lys
NM_001365052.2:c.763G>A	NP_001351981.1:p.Glu255Lys
NM_001386302.1:c.1030G>A	NP_001373231.1:p.Glu344Lys
NM_001386303.1:c.988G>A	NP_001373232.1:p.Glu330Lys
NM_001386304.1:c.886G>A	NP_001373233.1:p.Glu296Lys
NM_001386305.1:c.850G>A	NP_001373234.1:p.Glu284Lys
NM_001386306.1:c.691G>A	NP_001373235.1:p.Glu231Lys