Canonical Allele Identifier: CA154434
Gene: PLEC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.143975237C>T
GRCh37 chr8:g.145049405C>T
Revel Score:
ENST00000436759 0.100
ENST00000527096 0.100
ENST00000528025 0.100
gnomAD v2:
8:145049405 C / T
gnomAD v3:
8:143975237 C / T
gnomAD v4:
chr8-143975237-C-T
Joint Max Group AF 0.00209912 (AFR)
Genomes Max Group AF 0.00160549 (AFR)
Exomes Max Group AF 0.00245755 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143975237C>T , CM000670.2:g.143975237C>T GRCh38
NC_000008.10:g.145049405C>T , CM000670.1:g.145049405C>T GRCh37
NC_000008.9:g.145121393C>T NCBI36
NG_012492.1:g.6509G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.133G>A ENSP00000437303.2:p.Gly45Ser
ENST00000527303.2:c.133G>A ENSP00000433982.2:p.Gly45Ser
ENST00000436759.6:c.133G>A ENSP00000388180.2:p.Gly45Ser
ENST00000527096.5:c.133G>A ENSP00000434583.1:p.Gly45Ser
ENST00000528025.5:c.133G>A ENSP00000437303.1:p.Gly45Ser
NM_000445.4:c.133G>A NP_000436.2:p.Gly45Ser
XM_006716588.2:c.133G>A XP_006716651.1:p.Gly45Ser
XM_006716588.3:c.133G>A XP_006716651.1:p.Gly45Ser
NM_000445.5:c.133G>A NP_000436.2:p.Gly45Ser
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