Canonical Allele Identifier: CA385875806

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80460675-G-T
• MyVariant Identifiers: chr12:g.80460675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460675G>T , CM000674.2:g.80460675G>T	GRCh38
NC_000012.11:g.80849502C>A , CM000674.1:g.80849502C>A	GRCh37
NC_000012.10:g.79373633C>A	NCBI36
NG_034052.1:g.21330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.683G>T MANE Select	ENSP00000495607.1:p.Trp228Leu
ENST00000614701.4:c.683G>T	ENSP00000482885.1:p.Trp228Leu
ENST00000616559.4:c.809G>T	ENSP00000483259.1:p.Trp270Leu
NM_001145026.1:c.683G>T	NP_001138498.1:p.Trp228Leu
XM_011538290.1:c.683G>T	XP_011536592.1:p.Trp228Leu
XM_017019273.1:c.1349G>T	XP_016874762.1:p.Trp450Leu
XM_017019274.1:c.1349G>T	XP_016874763.1:p.Trp450Leu
XM_017019275.1:c.1349G>T	XP_016874764.1:p.Trp450Leu
XR_001748688.1:n.1486G>T
XR_001748689.1:n.1486G>T
NM_001145026.2:c.683G>T MANE Select	NP_001138498.1:p.Trp228Leu