Canonical Allele Identifier: CA385884119

Gene: PTPRQ

Linked Data

• gnomAD v4: 12-80484567-A-G
• MyVariant Identifiers: chr12:g.80878346A>G (hg19) ; chr12:g.80484567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484567A>G , CM000674.2:g.80484567A>G	GRCh38
NC_000012.11:g.80878346A>G , CM000674.1:g.80878346A>G	GRCh37
NC_000012.10:g.79402477A>G	NCBI36
NG_034052.1:g.45222A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1321A>G MANE Select	ENSP00000495607.1:p.Ile441Val
ENST00000614701.4:c.1321A>G	ENSP00000482885.1:p.Ile441Val
ENST00000616559.4:c.1447A>G	ENSP00000483259.1:p.Ile483Val
NM_001145026.1:c.1321A>G	NP_001138498.1:p.Ile441Val
XM_011538290.1:c.1321A>G	XP_011536592.1:p.Ile441Val
XM_017019273.1:c.1987A>G	XP_016874762.1:p.Ile663Val
XM_017019274.1:c.1987A>G	XP_016874763.1:p.Ile663Val
XM_017019275.1:c.1987A>G	XP_016874764.1:p.Ile663Val
XR_001748688.1:n.2124A>G
XR_001748689.1:n.2124A>G
NM_001145026.2:c.1321A>G MANE Select	NP_001138498.1:p.Ile441Val