Canonical Allele Identifier: CA385875813
Gene: PTPRQ HGNC NCBI

Linked Data

dbSNP Id: rs1893132757
MyVariant Identifiers: chr12:g.80460676G>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460676G>A , CM000674.2:g.80460676G>A GRCh38
NC_000012.11:g.80849501C>T , CM000674.1:g.80849501C>T GRCh37
NC_000012.10:g.79373632C>T NCBI36
NG_034052.1:g.21331G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.684G>A MANE Select ENSP00000495607.1:p.Trp228Ter
ENST00000614701.4:c.684G>A ENSP00000482885.1:p.Trp228Ter
ENST00000616559.4:c.810G>A ENSP00000483259.1:p.Trp270Ter
NM_001145026.1:c.684G>A NP_001138498.1:p.Trp228Ter
XM_011538290.1:c.684G>A XP_011536592.1:p.Trp228Ter
XM_017019273.1:c.1350G>A XP_016874762.1:p.Trp450Ter
XM_017019274.1:c.1350G>A XP_016874763.1:p.Trp450Ter
XM_017019275.1:c.1350G>A XP_016874764.1:p.Trp450Ter
XR_001748688.1:n.1487G>A
XR_001748689.1:n.1487G>A
NM_001145026.2:c.684G>A MANE Select NP_001138498.1:p.Trp228Ter