Canonical Allele Identifier: CA3350090

Gene: PCSK1

Linked Data

• dbSNP Id: rs763774085
• ExAC: 5:95729067 C / G
• gnomAD v2: 5-95729067-C-G
• gnomAD v4: 5-96393363-C-G
• MyVariant Identifiers: chr5:g.95729067C>G (hg19) ; chr5:g.96393363C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96393363C>G , CM000667.2:g.96393363C>G	GRCh38
NC_000005.9:g.95729067C>G , CM000667.1:g.95729067C>G	GRCh37
NC_000005.8:g.95754823C>G	NCBI36
NG_021161.1:g.44919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.1900G>C MANE Select	ENSP00000308024.2:p.Glu634Gln
ENST00000311106.7:c.1900G>C	ENSP00000308024.2:p.Glu634Gln
ENST00000508626.5:c.1759G>C	ENSP00000421600.1:p.Glu587Gln
ENST00000513085.1:n.1043G>C
NM_000439.4:c.1900G>C	NP_000430.3:p.Glu634Gln
NM_001177875.1:c.1759G>C	NP_001171346.1:p.Glu587Gln
NR_130776.1:n.354+13711C>G
NM_000439.5:c.1900G>C MANE Select	NP_000430.3:p.Glu634Gln
NM_001177875.2:c.1759G>C	NP_001171346.1:p.Glu587Gln