Canonical Allele Identifier: CA32781302

Gene: SERPINC1

Linked Data

• ClinVar Variation Id: 2429353
• ClinVar RCV Id: RCV003126293
• dbSNP Id: rs199469504
• MyVariant Identifiers: chr1:g.173881071G>A (hg19) ; chr1:g.173911933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.173911933G>A , CM000663.2:g.173911933G>A	GRCh38
NC_000001.10:g.173881071G>A , CM000663.1:g.173881071G>A	GRCh37
NC_000001.9:g.172147694G>A	NCBI36
NG_012462.1:g.10446C>T , LRG_577:g.10446C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367698.4:c.490C>T MANE Select	ENSP00000356671.3:p.Arg164Ter
ENST00000367698.3:c.490C>T	ENSP00000356671.3:p.Arg164Ter
ENST00000487183.1:n.195C>T
ENST00000617423.4:c.490C>T	ENSP00000478688.1:p.Arg164Ter
NM_000488.3:c.490C>T , LRG_577t1:c.490C>T	NP_000479.1:p.Arg164Ter
XM_005245198.2:c.346C>T	XP_005245255.1:p.Arg116Ter
NM_001365052.1:c.346C>T	NP_001351981.1:p.Arg116Ter
NM_000488.4:c.490C>T MANE Select	NP_000479.1:p.Arg164Ter
NM_001365052.2:c.346C>T	NP_001351981.1:p.Arg116Ter
NM_001386302.1:c.490C>T	NP_001373231.1:p.Arg164Ter
NM_001386303.1:c.571C>T	NP_001373232.1:p.Arg191Ter
NM_001386304.1:c.490C>T	NP_001373233.1:p.Arg164Ter
NM_001386305.1:c.490C>T	NP_001373234.1:p.Arg164Ter
NM_001386306.1:c.409-1042C>T	NP_001373235.1:n.409-1042C>T