Canonical Allele Identifier: CA15965537
Gene: PTPRT HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.42079239C>T
GRCh37 chr20:g.40707879C>T
gnomAD v2:
20:40707879 C / T
gnomAD v3:
20:42079239 C / T
gnomAD v4:
chr20-42079239-C-T
Joint Max Group AF 0.24427769 (NFE)
Genomes Max Group AF 0.24336189 (NFE)
Exomes Max Group AF 0.24309976 (NFE)
ClinVar RCV:
RCV001709770
ClinVar Variation:
1285993
dbSNP:
2866943
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.42079239C>T , CM000682.2:g.42079239C>T GRCh38
NC_000020.10:g.40707879C>T , CM000682.1:g.40707879C>T GRCh37
NC_000020.9:g.40141293C>T NCBI36
NG_033880.1:g.1115679G>A
NG_033880.2:g.1115679G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373187.6:c.*1640G>A MANE Select ENSP00000362283.1:n.*1640G>A
ENST00000356100.6:c.5993G>A ENSP00000348408.2:n.5993G>A
ENST00000373184.5:c.5996G>A ENSP00000362280.1:n.5996G>A
ENST00000373187.5:c.5966G>A ENSP00000362283.1:n.5966G>A
ENST00000373190.5:c.*1640G>A ENSP00000362286.1:n.*1640G>A
ENST00000373193.7:c.*1640G>A ENSP00000362289.4:n.*1640G>A
ENST00000373198.8:c.*1640G>A ENSP00000362294.4:n.*1640G>A
ENST00000373201.5:c.*1640G>A ENSP00000362297.1:n.*1640G>A
ENST00000612229.4:c.4820G>A ENSP00000481466.1:n.4820G>A
NM_007050.5:c.*1640G>A NP_008981.4:n.*1640G>A
NM_133170.3:c.*1640G>A NP_573400.3:n.*1640G>A
XM_011528511.1:c.*1640G>A XP_011526813.1:n.*1640G>A
XM_011528512.1:c.4513-2311G>A XP_011526814.1:n.4513-2311G>A
XM_011528513.1:c.*1640G>A XP_011526815.1:n.*1640G>A
XM_011528514.1:c.*1640G>A XP_011526816.1:n.*1640G>A
XM_011528515.1:c.*1640G>A XP_011526817.1:n.*1640G>A
XM_017027611.1:c.*1640G>A XP_016883100.1:n.*1640G>A
XM_017027612.1:c.*1640G>A XP_016883101.1:n.*1640G>A
XM_017027613.1:c.*1640G>A XP_016883102.1:n.*1640G>A
XM_024451820.1:c.4512+2643G>A XP_024307588.1:n.4512+2643G>A
XR_001754609.1:n.381-11340C>T
XR_001754610.1:n.525-11340C>T
XR_001754611.1:n.386-11340C>T
NM_007050.6:c.*1640G>A MANE Select NP_008981.4:n.*1640G>A
NM_133170.4:c.*1640G>A NP_573400.3:n.*1640G>A
NM_001394024.1:c.*1640G>A NP_001380953.1:n.*1640G>A
NM_001394025.1:c.*1640G>A NP_001380954.1:n.*1640G>A
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