Canonical Allele Identifier: CA240226834

Gene: PTPRQ

Linked Data

• dbSNP Id: rs534989227
• gnomAD v2: 12-80849429-C-T
• gnomAD v3: 12-80460748-G-A
• gnomAD v4: 12-80460748-G-A
• MyVariant Identifiers: chr12:g.80849429C>T (hg19) ; chr12:g.80460748G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460748G>A , CM000674.2:g.80460748G>A	GRCh38
NC_000012.11:g.80849429C>T , CM000674.1:g.80849429C>T	GRCh37
NC_000012.10:g.79373560C>T	NCBI36
NG_034052.1:g.21403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.756G>A MANE Select	ENSP00000495607.1:p.Thr252=
ENST00000614701.4:c.756G>A	ENSP00000482885.1:p.Thr252=
ENST00000616559.4:c.882G>A	ENSP00000483259.1:p.Thr294=
NM_001145026.1:c.756G>A	NP_001138498.1:p.Thr252=
XM_011538290.1:c.756G>A	XP_011536592.1:p.Thr252=
XM_017019273.1:c.1422G>A	XP_016874762.1:p.Thr474=
XM_017019274.1:c.1422G>A	XP_016874763.1:p.Thr474=
XM_017019275.1:c.1422G>A	XP_016874764.1:p.Thr474=
XR_001748688.1:n.1559G>A
XR_001748689.1:n.1559G>A
NM_001145026.2:c.756G>A MANE Select	NP_001138498.1:p.Thr252=