Canonical Allele Identifier: CA385876204
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460736T>A (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460736T>A , CM000674.2:g.80460736T>A GRCh38
NC_000012.11:g.80849441A>T , CM000674.1:g.80849441A>T GRCh37
NC_000012.10:g.79373572A>T NCBI36
NG_034052.1:g.21391T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.744T>A MANE Select ENSP00000495607.1:p.His248Gln
ENST00000614701.4:c.744T>A ENSP00000482885.1:p.His248Gln
ENST00000616559.4:c.870T>A ENSP00000483259.1:p.His290Gln
NM_001145026.1:c.744T>A NP_001138498.1:p.His248Gln
XM_011538290.1:c.744T>A XP_011536592.1:p.His248Gln
XM_017019273.1:c.1410T>A XP_016874762.1:p.His470Gln
XM_017019274.1:c.1410T>A XP_016874763.1:p.His470Gln
XM_017019275.1:c.1410T>A XP_016874764.1:p.His470Gln
XR_001748688.1:n.1547T>A
XR_001748689.1:n.1547T>A
NM_001145026.2:c.744T>A MANE Select NP_001138498.1:p.His248Gln