Canonical Allele Identifier: CA4321263
Gene: PCLO HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.83135109C>G
GRCh37 chr7:g.82764425C>G
Revel Score:
ENST00000431819 0.150
ENST00000333891 (MANE Select) 0.150
ENST00000423517 0.150
gnomAD v2:
7:82764425 C / G
gnomAD v3:
7:83135109 C / G
gnomAD v4:
chr7-83135109-C-G
Joint Max Group AF 0.98915775 (EAS)
Genomes Max Group AF 0.96970451 (EAS)
Exomes Max Group AF 0.98924963 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83135109C>G , CM000669.2:g.83135109C>G GRCh38
NC_000007.13:g.82764425C>G , CM000669.1:g.82764425C>G GRCh37
NC_000007.12:g.82602361C>G NCBI36
NG_047145.1:g.32773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333891.14:c.2441G>C MANE Select ENSP00000334319.8:p.Ser814Thr
ENST00000333891.13:c.2441G>C ENSP00000334319.8:p.Ser814Thr
ENST00000423517.6:c.2441G>C ENSP00000388393.2:p.Ser814Thr
NM_014510.2:c.2441G>C NP_055325.2:p.Ser814Thr
NM_033026.5:c.2441G>C NP_149015.2:p.Ser814Thr
XM_017012006.2:c.2441G>C XP_016867495.1:p.Ser814Thr
XM_017012007.1:c.2441G>C XP_016867496.1:p.Ser814Thr
XR_001744643.2:n.4010G>C
NM_033026.6:c.2441G>C MANE Select NP_149015.2:p.Ser814Thr
NM_014510.3:c.2441G>C NP_055325.2:p.Ser814Thr
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