Canonical Allele Identifier: CA151190
Gene: POGLUT1 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.119486846C>T
GRCh37 chr3:g.119205693C>T
gnomAD v2:
3:119205693 C / T
gnomAD v3:
3:119486846 C / T
gnomAD v4:
chr3-119486846-C-T
Joint Max Group AF 0.00002837 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.0000284 (NFE)
ClinVar RCV:
RCV000114420
RCV000820407
ClinVar Variation:
126529
dbSNP:
587777294
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119486846C>T , CM000665.2:g.119486846C>T GRCh38
NC_000003.11:g.119205693C>T , CM000665.1:g.119205693C>T GRCh37
NC_000003.10:g.120688383C>T NCBI36
NG_034115.1:g.22909C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295588.9:c.652C>T MANE Select ENSP00000295588.4:p.Arg218Ter
ENST00000647766.1:c.*372C>T ENSP00000498165.1:n.*372C>T
ENST00000295588.8:c.652C>T ENSP00000295588.4:p.Arg218Ter
ENST00000486607.5:c.*303C>T ENSP00000419876.1:n.*303C>T
ENST00000497447.5:c.*372C>T ENSP00000419288.1:n.*372C>T
NM_152305.2:c.652C>T NP_689518.1:p.Arg218Ter
NR_024265.1:n.879C>T
XM_006713704.2:c.175C>T XP_006713767.1:p.Arg59Ter
XM_006713705.2:c.175C>T XP_006713768.1:p.Arg59Ter
XM_011512997.1:c.652C>T XP_011511299.1:p.Arg218Ter
XM_006713705.3:c.175C>T XP_006713768.1:p.Arg59Ter
XM_017006878.2:c.175C>T XP_016862367.1:p.Arg59Ter
XM_017006879.1:c.175C>T XP_016862368.1:p.Arg59Ter
XM_024453643.1:c.175C>T XP_024309411.1:p.Arg59Ter
XR_001740211.2:n.711C>T
XR_001740212.2:n.711C>T
NM_152305.3:c.652C>T MANE Select NP_689518.1:p.Arg218Ter
NR_024265.2:n.854C>T
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