Canonical Allele Identifier: CA385876222

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80460738-C-A
• MyVariant Identifiers: chr12:g.80460738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460738C>A , CM000674.2:g.80460738C>A	GRCh38
NC_000012.11:g.80849439G>T , CM000674.1:g.80849439G>T	GRCh37
NC_000012.10:g.79373570G>T	NCBI36
NG_034052.1:g.21393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.746C>A MANE Select	ENSP00000495607.1:p.Ser249Ter
ENST00000614701.4:c.746C>A	ENSP00000482885.1:p.Ser249Ter
ENST00000616559.4:c.872C>A	ENSP00000483259.1:p.Ser291Ter
NM_001145026.1:c.746C>A	NP_001138498.1:p.Ser249Ter
XM_011538290.1:c.746C>A	XP_011536592.1:p.Ser249Ter
XM_017019273.1:c.1412C>A	XP_016874762.1:p.Ser471Ter
XM_017019274.1:c.1412C>A	XP_016874763.1:p.Ser471Ter
XM_017019275.1:c.1412C>A	XP_016874764.1:p.Ser471Ter
XR_001748688.1:n.1549C>A
XR_001748689.1:n.1549C>A
NM_001145026.2:c.746C>A MANE Select	NP_001138498.1:p.Ser249Ter