Canonical Allele Identifier: CA385875823
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460676G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.684G>T MANE Select ENSP00000495607.1:p.Trp228Cys
ENST00000614701.4:c.684G>T ENSP00000482885.1:p.Trp228Cys
ENST00000616559.4:c.810G>T ENSP00000483259.1:p.Trp270Cys
NM_001145026.1:c.684G>T NP_001138498.1:p.Trp228Cys
XM_011538290.1:c.684G>T XP_011536592.1:p.Trp228Cys
XM_017019273.1:c.1350G>T XP_016874762.1:p.Trp450Cys
XM_017019274.1:c.1350G>T XP_016874763.1:p.Trp450Cys
XM_017019275.1:c.1350G>T XP_016874764.1:p.Trp450Cys
XR_001748688.1:n.1487G>T
XR_001748689.1:n.1487G>T
NM_001145026.2:c.684G>T MANE Select NP_001138498.1:p.Trp228Cys