Canonical Allele Identifier: CA385876196

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80460734-C-T
• MyVariant Identifiers: chr12:g.80460734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460734C>T , CM000674.2:g.80460734C>T	GRCh38
NC_000012.11:g.80849443G>A , CM000674.1:g.80849443G>A	GRCh37
NC_000012.10:g.79373574G>A	NCBI36
NG_034052.1:g.21389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.742C>T MANE Select	ENSP00000495607.1:p.His248Tyr
ENST00000614701.4:c.742C>T	ENSP00000482885.1:p.His248Tyr
ENST00000616559.4:c.868C>T	ENSP00000483259.1:p.His290Tyr
NM_001145026.1:c.742C>T	NP_001138498.1:p.His248Tyr
XM_011538290.1:c.742C>T	XP_011536592.1:p.His248Tyr
XM_017019273.1:c.1408C>T	XP_016874762.1:p.His470Tyr
XM_017019274.1:c.1408C>T	XP_016874763.1:p.His470Tyr
XM_017019275.1:c.1408C>T	XP_016874764.1:p.His470Tyr
XR_001748688.1:n.1545C>T
XR_001748689.1:n.1545C>T
NM_001145026.2:c.742C>T MANE Select	NP_001138498.1:p.His248Tyr