Canonical Allele Identifier: CA360485240
Gene: PCSK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 995956
ClinVar RCV Id: RCV001290206
dbSNP Id: rs765019354
gnomAD v2: 5-95764964-G-A
gnomAD v4: 5-96429260-G-A
MyVariant Identifiers: chr5:g.95764964G>A (hg19) chr5:g.96429260G>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.238C>T MANE Select ENSP00000308024.2:p.Arg80Ter
ENST00000311106.7:c.238C>T ENSP00000308024.2:p.Arg80Ter
ENST00000508626.5:c.97C>T ENSP00000421600.1:p.Arg33Ter
ENST00000509190.1:c.238C>T ENSP00000427294.1:p.Arg80Ter
NM_000439.4:c.238C>T NP_000430.3:p.Arg80Ter
NM_001177875.1:c.97C>T NP_001171346.1:p.Arg33Ter
NR_130776.1:n.354+49608G>A
NM_000439.5:c.238C>T MANE Select NP_000430.3:p.Arg80Ter
NM_001177875.2:c.97C>T NP_001171346.1:p.Arg33Ter
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