Canonical Allele Identifier: CA15518825
Gene: PCLO HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.82820719A>C
GRCh37 chr7:g.82450035A>C
gnomAD v2:
7:82450035 A / C
gnomAD v3:
7:82820719 A / C
gnomAD v4:
chr7-82820719-A-C
Joint Max Group AF 0.8631452 (EAS)
Genomes Max Group AF 0.82848059 (EAS)
Exomes Max Group AF 0.86667375 (EAS)
dbSNP:
2715148
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82820719A>C , CM000669.2:g.82820719A>C GRCh38
NC_000007.13:g.82450035A>C , CM000669.1:g.82450035A>C GRCh37
NC_000007.12:g.82287971A>C NCBI36
NG_047145.1:g.347163T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333891.14:c.14791+1776T>G MANE Select ENSP00000334319.8:n.14791+1776T>G
ENST00000333891.13:c.14791+1776T>G ENSP00000334319.8:n.14791+1776T>G
ENST00000423517.6:c.*1759T>G ENSP00000388393.2:n.*1759T>G
ENST00000432078.2:n.279+393T>G
NM_014510.2:c.*1759T>G NP_055325.2:n.*1759T>G
NM_033026.5:c.14791+1776T>G NP_149015.2:n.14791+1776T>G
XM_017012006.2:c.7879+393T>G XP_016867495.1:n.7879+393T>G
XR_001744643.2:n.17743+393T>G
NM_033026.6:c.14791+1776T>G MANE Select NP_149015.2:n.14791+1776T>G
NM_014510.3:c.*1759T>G NP_055325.2:n.*1759T>G
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