Canonical Allele Identifier: CA385876206

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1267823193
• gnomAD v3: 12-80460736-T-G
• gnomAD v4: 12-80460736-T-G
• MyVariant Identifiers: chr12:g.80849441A>C (hg19) ; chr12:g.80460736T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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