Canonical Allele Identifier: CA343774544

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 627149
• ClinVar RCV Id: RCV000851901
• dbSNP Id: rs1572088737
• MyVariant Identifiers: chr1:g.173878992A>T (hg19) ; chr1:g.173909854A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173909854A>T , CM000663.2:g.173909854A>T	GRCh38
NC_000001.10:g.173878992A>T , CM000663.1:g.173878992A>T	GRCh37
NC_000001.9:g.172145615A>T	NCBI36
NG_012462.1:g.12525T>A , LRG_577:g.12525T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367698.4:c.851T>A MANE Select	ENSP00000356671.3:p.Met284Lys
ENST00000367698.3:c.851T>A	ENSP00000356671.3:p.Met284Lys
ENST00000487183.1:n.502T>A
ENST00000617423.4:c.559+2010T>A	ENSP00000478688.1:n.559+2010T>A
NM_000488.3:c.851T>A , LRG_577t1:c.851T>A	NP_000479.1:p.Met284Lys
XM_005245198.2:c.707T>A	XP_005245255.1:p.Met236Lys
NM_001365052.1:c.707T>A	NP_001351981.1:p.Met236Lys
NM_000488.4:c.851T>A MANE Select	NP_000479.1:p.Met284Lys
NM_001365052.2:c.707T>A	NP_001351981.1:p.Met236Lys
NM_001386302.1:c.974T>A	NP_001373231.1:p.Met325Lys
NM_001386303.1:c.932T>A	NP_001373232.1:p.Met311Lys
NM_001386304.1:c.830T>A	NP_001373233.1:p.Met277Lys
NM_001386305.1:c.794T>A	NP_001373234.1:p.Met265Lys
NM_001386306.1:c.635T>A	NP_001373235.1:p.Met212Lys