Canonical Allele Identifier: CA360483268

Gene: PCSK1

Linked Data

• dbSNP Id: rs1475050973
• gnomAD v2: 5-95751812-A-G
• gnomAD v4: 5-96416108-A-G
• MyVariant Identifiers: chr5:g.95751812A>G (hg19) ; chr5:g.96416108A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96416108A>G , CM000667.2:g.96416108A>G	GRCh38
NC_000005.9:g.95751812A>G , CM000667.1:g.95751812A>G	GRCh37
NC_000005.8:g.95777568A>G	NCBI36
NG_021161.1:g.22174T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.634T>C MANE Select	ENSP00000308024.2:p.Cys212Arg
ENST00000311106.7:c.634T>C	ENSP00000308024.2:p.Cys212Arg
ENST00000508626.5:c.493T>C	ENSP00000421600.1:p.Cys165Arg
NM_000439.4:c.634T>C	NP_000430.3:p.Cys212Arg
NM_001177875.1:c.493T>C	NP_001171346.1:p.Cys165Arg
NR_130776.1:n.354+36456A>G
NM_000439.5:c.634T>C MANE Select	NP_000430.3:p.Cys212Arg
NM_001177875.2:c.493T>C	NP_001171346.1:p.Cys165Arg