Canonical Allele Identifier: CA372492150
Gene: PLEC HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.143975320T>C
GRCh37 chr8:g.145049488T>C
Revel Score:
ENST00000436759 0.158
ENST00000527096 0.158
ENST00000528025 0.158
gnomAD v4:
chr8-143975320-T-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV000604252
RCV001343265
ClinVar Variation:
514624
dbSNP:
1554745695
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143975320T>C , CM000670.2:g.143975320T>C GRCh38
NC_000008.10:g.145049488T>C , CM000670.1:g.145049488T>C GRCh37
NC_000008.9:g.145121476T>C NCBI36
NG_012492.1:g.6426A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000528025.6:c.50A>G ENSP00000437303.2:p.Asn17Ser
ENST00000527303.2:c.50A>G ENSP00000433982.2:p.Asn17Ser
ENST00000436759.6:c.50A>G ENSP00000388180.2:p.Asn17Ser
ENST00000527096.5:c.50A>G ENSP00000434583.1:p.Asn17Ser
ENST00000528025.5:c.50A>G ENSP00000437303.1:p.Asn17Ser
NM_000445.4:c.50A>G NP_000436.2:p.Asn17Ser
XM_006716588.2:c.50A>G XP_006716651.1:p.Asn17Ser
XM_006716588.3:c.50A>G XP_006716651.1:p.Asn17Ser
NM_000445.5:c.50A>G NP_000436.2:p.Asn17Ser
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