Canonical Allele Identifier: CA6702414

Gene: PTPRQ

Linked Data

• dbSNP Id: rs753038688
• ExAC: 12:80878363 T / G
• gnomAD v2: 12-80878363-T-G
• gnomAD v4: 12-80484584-T-G
• MyVariant Identifiers: chr12:g.80878363T>G (hg19) ; chr12:g.80484584T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484584T>G , CM000674.2:g.80484584T>G	GRCh38
NC_000012.11:g.80878363T>G , CM000674.1:g.80878363T>G	GRCh37
NC_000012.10:g.79402494T>G	NCBI36
NG_034052.1:g.45239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1338T>G MANE Select	ENSP00000495607.1:p.Thr446=
ENST00000614701.4:c.1338T>G	ENSP00000482885.1:p.Thr446=
ENST00000616559.4:c.1464T>G	ENSP00000483259.1:p.Thr488=
NM_001145026.1:c.1338T>G	NP_001138498.1:p.Thr446=
XM_011538290.1:c.1338T>G	XP_011536592.1:p.Thr446=
XM_017019273.1:c.2004T>G	XP_016874762.1:p.Thr668=
XM_017019274.1:c.2004T>G	XP_016874763.1:p.Thr668=
XM_017019275.1:c.2004T>G	XP_016874764.1:p.Thr668=
XR_001748688.1:n.2141T>G
XR_001748689.1:n.2141T>G
NM_001145026.2:c.1338T>G MANE Select	NP_001138498.1:p.Thr446=