Canonical Allele Identifier: CA3350069
Gene: PCSK1 HGNC NCBI
COSMIC:
COSM5003991 (not active)
MyVariant.info:
GRCh38 chr5:g.96393270G>C
GRCh37 chr5:g.95728974G>C
Revel Score:
ENST00000311106 (MANE Select) 0.081
ENST00000508626 0.081
gnomAD v2:
5:95728974 G / C
gnomAD v3:
5:96393270 G / C
gnomAD v4:
chr5-96393270-G-C
Joint Max Group AF 0.30252605 (SAS)
Genomes Max Group AF 0.29693723 (SAS)
Exomes Max Group AF 0.30219428 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96393270G>C , CM000667.2:g.96393270G>C GRCh38
NC_000005.9:g.95728974G>C , CM000667.1:g.95728974G>C GRCh37
NC_000005.8:g.95754730G>C NCBI36
NG_021161.1:g.45012C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.1993C>G MANE Select ENSP00000308024.2:p.Gln665Glu
ENST00000311106.7:c.1993C>G ENSP00000308024.2:p.Gln665Glu
ENST00000508626.5:c.1852C>G ENSP00000421600.1:p.Gln618Glu
ENST00000513085.1:n.1136C>G
NM_000439.4:c.1993C>G NP_000430.3:p.Gln665Glu
NM_001177875.1:c.1852C>G NP_001171346.1:p.Gln618Glu
NR_130776.1:n.354+13618G>C
NM_000439.5:c.1993C>G MANE Select NP_000430.3:p.Gln665Glu
NM_001177875.2:c.1852C>G NP_001171346.1:p.Gln618Glu
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