Canonical Allele Identifier: CA385876060

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1454830845
• gnomAD v2: 12-80849472-C-G
• gnomAD v3: 12-80460705-G-C
• gnomAD v4: 12-80460705-G-C
• MyVariant Identifiers: chr12:g.80849472C>G (hg19) ; chr12:g.80460705G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460705G>C , CM000674.2:g.80460705G>C	GRCh38
NC_000012.11:g.80849472C>G , CM000674.1:g.80849472C>G	GRCh37
NC_000012.10:g.79373603C>G	NCBI36
NG_034052.1:g.21360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.713G>C MANE Select	ENSP00000495607.1:p.Gly238Ala
ENST00000614701.4:c.713G>C	ENSP00000482885.1:p.Gly238Ala
ENST00000616559.4:c.839G>C	ENSP00000483259.1:p.Gly280Ala
NM_001145026.1:c.713G>C	NP_001138498.1:p.Gly238Ala
XM_011538290.1:c.713G>C	XP_011536592.1:p.Gly238Ala
XM_017019273.1:c.1379G>C	XP_016874762.1:p.Gly460Ala
XM_017019274.1:c.1379G>C	XP_016874763.1:p.Gly460Ala
XM_017019275.1:c.1379G>C	XP_016874764.1:p.Gly460Ala
XR_001748688.1:n.1516G>C
XR_001748689.1:n.1516G>C
NM_001145026.2:c.713G>C MANE Select	NP_001138498.1:p.Gly238Ala