Canonical Allele Identifier: CA480815551

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1278745962
• gnomAD v2: 12-80878364-T-C
• gnomAD v4: 12-80484585-T-C
• MyVariant Identifiers: chr12:g.80878364T>C (hg19) ; chr12:g.80484585T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484585T>C , CM000674.2:g.80484585T>C	GRCh38
NC_000012.11:g.80878364T>C , CM000674.1:g.80878364T>C	GRCh37
NC_000012.10:g.79402495T>C	NCBI36
NG_034052.1:g.45240T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1339T>C MANE Select	ENSP00000495607.1:p.Leu447=
ENST00000614701.4:c.1339T>C	ENSP00000482885.1:p.Leu447=
ENST00000616559.4:c.1465T>C	ENSP00000483259.1:p.Leu489=
NM_001145026.1:c.1339T>C	NP_001138498.1:p.Leu447=
XM_011538290.1:c.1339T>C	XP_011536592.1:p.Leu447=
XM_017019273.1:c.2005T>C	XP_016874762.1:p.Leu669=
XM_017019274.1:c.2005T>C	XP_016874763.1:p.Leu669=
XM_017019275.1:c.2005T>C	XP_016874764.1:p.Leu669=
XR_001748688.1:n.2142T>C
XR_001748689.1:n.2142T>C
NM_001145026.2:c.1339T>C MANE Select	NP_001138498.1:p.Leu447=