Canonical Allele Identifier: CA240226821

Gene: PTPRQ

Linked Data

• dbSNP Id: rs187394184
• gnomAD v2: 12-80849453-C-T
• gnomAD v3: 12-80460724-G-A
• gnomAD v4: 12-80460724-G-A
• MyVariant Identifiers: chr12:g.80849453C>T (hg19) ; chr12:g.80460724G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460724G>A , CM000674.2:g.80460724G>A	GRCh38
NC_000012.11:g.80849453C>T , CM000674.1:g.80849453C>T	GRCh37
NC_000012.10:g.79373584C>T	NCBI36
NG_034052.1:g.21379G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.732G>A MANE Select	ENSP00000495607.1:p.Ser244=
ENST00000614701.4:c.732G>A	ENSP00000482885.1:p.Ser244=
ENST00000616559.4:c.858G>A	ENSP00000483259.1:p.Ser286=
NM_001145026.1:c.732G>A	NP_001138498.1:p.Ser244=
XM_011538290.1:c.732G>A	XP_011536592.1:p.Ser244=
XM_017019273.1:c.1398G>A	XP_016874762.1:p.Ser466=
XM_017019274.1:c.1398G>A	XP_016874763.1:p.Ser466=
XM_017019275.1:c.1398G>A	XP_016874764.1:p.Ser466=
XR_001748688.1:n.1535G>A
XR_001748689.1:n.1535G>A
NM_001145026.2:c.732G>A MANE Select	NP_001138498.1:p.Ser244=