Canonical Allele Identifier: CA123730
Gene: PCSK1 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.96410949G>A
GRCh37 chr5:g.95746653G>A
Revel Score:
ENST00000311106 (MANE Select) 0.865
ENST00000508626 0.865
gnomAD v2:
5:95746653 G / A
gnomAD v3:
5:96410949 G / A
gnomAD v4:
chr5-96410949-G-A
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar Allele:
29080
ClinVar RCV:
RCV000015085
ClinVar Variation:
14041
dbSNP:
137852824
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96410949G>A , CM000667.2:g.96410949G>A GRCh38
NC_000005.9:g.95746653G>A , CM000667.1:g.95746653G>A GRCh37
NC_000005.8:g.95772409G>A NCBI36
NG_021161.1:g.27333C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000311106.8:c.920C>T MANE Select ENSP00000308024.2:p.Ser307Leu
ENST00000311106.7:c.920C>T ENSP00000308024.2:p.Ser307Leu
ENST00000508626.5:c.779C>T ENSP00000421600.1:p.Ser260Leu
ENST00000513085.1:n.238+1369C>T
NM_000439.4:c.920C>T NP_000430.3:p.Ser307Leu
NM_001177875.1:c.779C>T NP_001171346.1:p.Ser260Leu
NR_130776.1:n.354+31297G>A
NM_000439.5:c.920C>T MANE Select NP_000430.3:p.Ser307Leu
NM_001177875.2:c.779C>T NP_001171346.1:p.Ser260Leu
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