Canonical Allele Identifier: CA385876410

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80460774-T-C
• MyVariant Identifiers: chr12:g.80460774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460774T>C , CM000674.2:g.80460774T>C	GRCh38
NC_000012.11:g.80849403A>G , CM000674.1:g.80849403A>G	GRCh37
NC_000012.10:g.79373534A>G	NCBI36
NG_034052.1:g.21429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.782T>C MANE Select	ENSP00000495607.1:p.Val261Ala
ENST00000614701.4:c.782T>C	ENSP00000482885.1:p.Val261Ala
ENST00000616559.4:c.908T>C	ENSP00000483259.1:p.Val303Ala
NM_001145026.1:c.782T>C	NP_001138498.1:p.Val261Ala
XM_011538290.1:c.782T>C	XP_011536592.1:p.Val261Ala
XM_017019273.1:c.1448T>C	XP_016874762.1:p.Val483Ala
XM_017019274.1:c.1448T>C	XP_016874763.1:p.Val483Ala
XM_017019275.1:c.1448T>C	XP_016874764.1:p.Val483Ala
XR_001748688.1:n.1585T>C
XR_001748689.1:n.1585T>C
NM_001145026.2:c.782T>C MANE Select	NP_001138498.1:p.Val261Ala