Canonical Allele Identifier: CA3350552

Gene: PCSK1

Linked Data

• dbSNP Id: rs765019354
• ExAC: 5:95764964 G / C
• gnomAD v2: 5-95764964-G-C
• gnomAD v4: 5-96429260-G-C
• MyVariant Identifiers: chr5:g.95764964G>C (hg19) ; chr5:g.96429260G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.96429260G>C , CM000667.2:g.96429260G>C	GRCh38
NC_000005.9:g.95764964G>C , CM000667.1:g.95764964G>C	GRCh37
NC_000005.8:g.95790720G>C	NCBI36
NG_021161.1:g.9022C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311106.8:c.238C>G MANE Select	ENSP00000308024.2:p.Arg80Gly
ENST00000311106.7:c.238C>G	ENSP00000308024.2:p.Arg80Gly
ENST00000508626.5:c.97C>G	ENSP00000421600.1:p.Arg33Gly
ENST00000509190.1:c.238C>G	ENSP00000427294.1:p.Arg80Gly
NM_000439.4:c.238C>G	NP_000430.3:p.Arg80Gly
NM_001177875.1:c.97C>G	NP_001171346.1:p.Arg33Gly
NR_130776.1:n.354+49608G>C
NM_000439.5:c.238C>G MANE Select	NP_000430.3:p.Arg80Gly
NM_001177875.2:c.97C>G	NP_001171346.1:p.Arg33Gly