Canonical Allele Identifier: CA343774745

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 627140
• ClinVar RCV Id: RCV000851889
• dbSNP Id: rs1572088824
• MyVariant Identifiers: chr1:g.173879046G>T (hg19) ; chr1:g.173909908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909908G>T , CM000663.2:g.173909908G>T	GRCh38
NC_000001.10:g.173879046G>T , CM000663.1:g.173879046G>T	GRCh37
NC_000001.9:g.172145669G>T	NCBI36
NG_012462.1:g.12471C>A , LRG_577:g.12471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.797C>A MANE Select	ENSP00000356671.3:p.Thr266Lys
ENST00000367698.3:c.797C>A	ENSP00000356671.3:p.Thr266Lys
ENST00000487183.1:n.448C>A
ENST00000617423.4:c.559+1956C>A	ENSP00000478688.1:n.559+1956C>A
NM_000488.3:c.797C>A , LRG_577t1:c.797C>A	NP_000479.1:p.Thr266Lys
XM_005245198.2:c.653C>A	XP_005245255.1:p.Thr218Lys
NM_001365052.1:c.653C>A	NP_001351981.1:p.Thr218Lys
NM_000488.4:c.797C>A MANE Select	NP_000479.1:p.Thr266Lys
NM_001365052.2:c.653C>A	NP_001351981.1:p.Thr218Lys
NM_001386302.1:c.920C>A	NP_001373231.1:p.Thr307Lys
NM_001386303.1:c.878C>A	NP_001373232.1:p.Thr293Lys
NM_001386304.1:c.776C>A	NP_001373233.1:p.Thr259Lys
NM_001386305.1:c.763-23C>A	NP_001373234.1:n.763-23C>A
NM_001386306.1:c.581C>A	NP_001373235.1:p.Thr194Lys