Canonical Allele Identifier: CA3350207

Gene: PCSK1

Linked Data

• dbSNP Id: rs535943293
• ExAC: 5:95734725 A / G
• gnomAD v2: 5-95734725-A-G
• MyVariant Identifiers: chr5:g.95734725A>G (hg19) ; chr5:g.96399021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96399021A>G , CM000667.2:g.96399021A>G	GRCh38
NC_000005.9:g.95734725A>G , CM000667.1:g.95734725A>G	GRCh37
NC_000005.8:g.95760481A>G	NCBI36
NG_021161.1:g.39261T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311106.8:c.1446T>C MANE Select	ENSP00000308024.2:p.Asn482=
ENST00000311106.7:c.1446T>C	ENSP00000308024.2:p.Asn482=
ENST00000508626.5:c.1305T>C	ENSP00000421600.1:p.Asn435=
ENST00000513085.1:n.589T>C
NM_000439.4:c.1446T>C	NP_000430.3:p.Asn482=
NM_001177875.1:c.1305T>C	NP_001171346.1:p.Asn435=
NR_130776.1:n.354+19369A>G
NM_000439.5:c.1446T>C MANE Select	NP_000430.3:p.Asn482=
NM_001177875.2:c.1305T>C	NP_001171346.1:p.Asn435=