Canonical Allele Identifier: CA6702402

Gene: PTPRQ

Linked Data

• dbSNP Id: rs746459141
• ExAC: 12:80878218 G / C
• gnomAD v2: 12-80878218-G-C
• gnomAD v4: 12-80484439-G-C
• MyVariant Identifiers: chr12:g.80878218G>C (hg19) ; chr12:g.80484439G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484439G>C , CM000674.2:g.80484439G>C	GRCh38
NC_000012.11:g.80878218G>C , CM000674.1:g.80878218G>C	GRCh37
NC_000012.10:g.79402349G>C	NCBI36
NG_034052.1:g.45094G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644991.3:c.1193G>C MANE Select	ENSP00000495607.1:p.Gly398Ala
ENST00000614701.4:c.1193G>C	ENSP00000482885.1:p.Gly398Ala
ENST00000616559.4:c.1319G>C	ENSP00000483259.1:p.Gly440Ala
NM_001145026.1:c.1193G>C	NP_001138498.1:p.Gly398Ala
XM_011538290.1:c.1193G>C	XP_011536592.1:p.Gly398Ala
XM_017019273.1:c.1859G>C	XP_016874762.1:p.Gly620Ala
XM_017019274.1:c.1859G>C	XP_016874763.1:p.Gly620Ala
XM_017019275.1:c.1859G>C	XP_016874764.1:p.Gly620Ala
XR_001748688.1:n.1996G>C
XR_001748689.1:n.1996G>C
NM_001145026.2:c.1193G>C MANE Select	NP_001138498.1:p.Gly398Ala