Canonical Allele Identifier: CA385875859

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1893133262
• gnomAD v3: 12-80460680-A-G
• gnomAD v4: 12-80460680-A-G
• MyVariant Identifiers: chr12:g.80460680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460680A>G , CM000674.2:g.80460680A>G	GRCh38
NC_000012.11:g.80849497T>C , CM000674.1:g.80849497T>C	GRCh37
NC_000012.10:g.79373628T>C	NCBI36
NG_034052.1:g.21335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.688A>G MANE Select	ENSP00000495607.1:p.Thr230Ala
ENST00000614701.4:c.688A>G	ENSP00000482885.1:p.Thr230Ala
ENST00000616559.4:c.814A>G	ENSP00000483259.1:p.Thr272Ala
NM_001145026.1:c.688A>G	NP_001138498.1:p.Thr230Ala
XM_011538290.1:c.688A>G	XP_011536592.1:p.Thr230Ala
XM_017019273.1:c.1354A>G	XP_016874762.1:p.Thr452Ala
XM_017019274.1:c.1354A>G	XP_016874763.1:p.Thr452Ala
XM_017019275.1:c.1354A>G	XP_016874764.1:p.Thr452Ala
XR_001748688.1:n.1491A>G
XR_001748689.1:n.1491A>G
NM_001145026.2:c.688A>G MANE Select	NP_001138498.1:p.Thr230Ala