Canonical Allele Identifier: CA385884153

Gene: PTPRQ

Linked Data

• MyVariant Identifiers: chr12:g.80878354G>C (hg19) ; chr12:g.80484575G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484575G>C , CM000674.2:g.80484575G>C	GRCh38
NC_000012.11:g.80878354G>C , CM000674.1:g.80878354G>C	GRCh37
NC_000012.10:g.79402485G>C	NCBI36
NG_034052.1:g.45230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1329G>C MANE Select	ENSP00000495607.1:p.Leu443Phe
ENST00000614701.4:c.1329G>C	ENSP00000482885.1:p.Leu443Phe
ENST00000616559.4:c.1455G>C	ENSP00000483259.1:p.Leu485Phe
NM_001145026.1:c.1329G>C	NP_001138498.1:p.Leu443Phe
XM_011538290.1:c.1329G>C	XP_011536592.1:p.Leu443Phe
XM_017019273.1:c.1995G>C	XP_016874762.1:p.Leu665Phe
XM_017019274.1:c.1995G>C	XP_016874763.1:p.Leu665Phe
XM_017019275.1:c.1995G>C	XP_016874764.1:p.Leu665Phe
XR_001748688.1:n.2132G>C
XR_001748689.1:n.2132G>C
NM_001145026.2:c.1329G>C MANE Select	NP_001138498.1:p.Leu443Phe