Canonical Allele Identifier: CA385875745

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80460671-T-A
• MyVariant Identifiers: chr12:g.80460671T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460671T>A , CM000674.2:g.80460671T>A	GRCh38
NC_000012.11:g.80849506A>T , CM000674.1:g.80849506A>T	GRCh37
NC_000012.10:g.79373637A>T	NCBI36
NG_034052.1:g.21326T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.679T>A MANE Select	ENSP00000495607.1:p.Leu227Ile
ENST00000614701.4:c.679T>A	ENSP00000482885.1:p.Leu227Ile
ENST00000616559.4:c.805T>A	ENSP00000483259.1:p.Leu269Ile
NM_001145026.1:c.679T>A	NP_001138498.1:p.Leu227Ile
XM_011538290.1:c.679T>A	XP_011536592.1:p.Leu227Ile
XM_017019273.1:c.1345T>A	XP_016874762.1:p.Leu449Ile
XM_017019274.1:c.1345T>A	XP_016874763.1:p.Leu449Ile
XM_017019275.1:c.1345T>A	XP_016874764.1:p.Leu449Ile
XR_001748688.1:n.1482T>A
XR_001748689.1:n.1482T>A
NM_001145026.2:c.679T>A MANE Select	NP_001138498.1:p.Leu227Ile