Canonical Allele Identifier: CA385883803

Gene: PTPRQ

Linked Data

• MyVariant Identifiers: chr12:g.80878275G>A (hg19) ; chr12:g.80484496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484496G>A , CM000674.2:g.80484496G>A	GRCh38
NC_000012.11:g.80878275G>A , CM000674.1:g.80878275G>A	GRCh37
NC_000012.10:g.79402406G>A	NCBI36
NG_034052.1:g.45151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1250G>A MANE Select	ENSP00000495607.1:p.Trp417Ter
ENST00000614701.4:c.1250G>A	ENSP00000482885.1:p.Trp417Ter
ENST00000616559.4:c.1376G>A	ENSP00000483259.1:p.Trp459Ter
NM_001145026.1:c.1250G>A	NP_001138498.1:p.Trp417Ter
XM_011538290.1:c.1250G>A	XP_011536592.1:p.Trp417Ter
XM_017019273.1:c.1916G>A	XP_016874762.1:p.Trp639Ter
XM_017019274.1:c.1916G>A	XP_016874763.1:p.Trp639Ter
XM_017019275.1:c.1916G>A	XP_016874764.1:p.Trp639Ter
XR_001748688.1:n.2053G>A
XR_001748689.1:n.2053G>A
NM_001145026.2:c.1250G>A MANE Select	NP_001138498.1:p.Trp417Ter