Canonical Allele Identifier: CA385876051
Gene: PTPRQ HGNC NCBI

Linked Data

dbSNP Id: rs2120479642
MyVariant Identifiers: chr12:g.80460702T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460702T>A , CM000674.2:g.80460702T>A GRCh38
NC_000012.11:g.80849475A>T , CM000674.1:g.80849475A>T GRCh37
NC_000012.10:g.79373606A>T NCBI36
NG_034052.1:g.21357T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.710T>A MANE Select ENSP00000495607.1:p.Leu237His
ENST00000614701.4:c.710T>A ENSP00000482885.1:p.Leu237His
ENST00000616559.4:c.836T>A ENSP00000483259.1:p.Leu279His
NM_001145026.1:c.710T>A NP_001138498.1:p.Leu237His
XM_011538290.1:c.710T>A XP_011536592.1:p.Leu237His
XM_017019273.1:c.1376T>A XP_016874762.1:p.Leu459His
XM_017019274.1:c.1376T>A XP_016874763.1:p.Leu459His
XM_017019275.1:c.1376T>A XP_016874764.1:p.Leu459His
XR_001748688.1:n.1513T>A
XR_001748689.1:n.1513T>A
NM_001145026.2:c.710T>A MANE Select NP_001138498.1:p.Leu237His