Canonical Allele Identifier: CA385876084
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460711T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460711T>C , CM000674.2:g.80460711T>C GRCh38
NC_000012.11:g.80849466A>G , CM000674.1:g.80849466A>G GRCh37
NC_000012.10:g.79373597A>G NCBI36
NG_034052.1:g.21366T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.719T>C MANE Select ENSP00000495607.1:p.Val240Ala
ENST00000614701.4:c.719T>C ENSP00000482885.1:p.Val240Ala
ENST00000616559.4:c.845T>C ENSP00000483259.1:p.Val282Ala
NM_001145026.1:c.719T>C NP_001138498.1:p.Val240Ala
XM_011538290.1:c.719T>C XP_011536592.1:p.Val240Ala
XM_017019273.1:c.1385T>C XP_016874762.1:p.Val462Ala
XM_017019274.1:c.1385T>C XP_016874763.1:p.Val462Ala
XM_017019275.1:c.1385T>C XP_016874764.1:p.Val462Ala
XR_001748688.1:n.1522T>C
XR_001748689.1:n.1522T>C
NM_001145026.2:c.719T>C MANE Select NP_001138498.1:p.Val240Ala