Canonical Allele Identifier: CA32780413

Gene: SERPINC1

Linked Data

• dbSNP Id: rs1036017552
• gnomAD v4: 1-173909838-C-T
• MyVariant Identifiers: chr1:g.173878976C>T (hg19) ; chr1:g.173909838C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909838C>T , CM000663.2:g.173909838C>T	GRCh38
NC_000001.10:g.173878976C>T , CM000663.1:g.173878976C>T	GRCh37
NC_000001.9:g.172145599C>T	NCBI36
NG_012462.1:g.12541G>A , LRG_577:g.12541G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.867G>A MANE Select	ENSP00000356671.3:p.Lys289=
ENST00000367698.3:c.867G>A	ENSP00000356671.3:p.Lys289=
ENST00000487183.1:n.518G>A
ENST00000617423.4:c.559+2026G>A	ENSP00000478688.1:n.559+2026G>A
NM_000488.3:c.867G>A , LRG_577t1:c.867G>A	NP_000479.1:p.Lys289=
XM_005245198.2:c.723G>A	XP_005245255.1:p.Lys241=
NM_001365052.1:c.723G>A	NP_001351981.1:p.Lys241=
NM_000488.4:c.867G>A MANE Select	NP_000479.1:p.Lys289=
NM_001365052.2:c.723G>A	NP_001351981.1:p.Lys241=
NM_001386302.1:c.990G>A	NP_001373231.1:p.Lys330=
NM_001386303.1:c.948G>A	NP_001373232.1:p.Lys316=
NM_001386304.1:c.846G>A	NP_001373233.1:p.Lys282=
NM_001386305.1:c.810G>A	NP_001373234.1:p.Lys270=
NM_001386306.1:c.651G>A	NP_001373235.1:p.Lys217=