Canonical Allele Identifier: CA6702415

Gene: PTPRQ

Linked Data

• dbSNP Id: rs773869003
• ExAC: 12:80878366 G / C
• gnomAD v2: 12-80878366-G-C
• gnomAD v3: 12-80484587-G-C
• gnomAD v4: 12-80484587-G-C
• MyVariant Identifiers: chr12:g.80878366G>C (hg19) ; chr12:g.80484587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484587G>C , CM000674.2:g.80484587G>C	GRCh38
NC_000012.11:g.80878366G>C , CM000674.1:g.80878366G>C	GRCh37
NC_000012.10:g.79402497G>C	NCBI36
NG_034052.1:g.45242G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1341G>C MANE Select	ENSP00000495607.1:p.Leu447Phe
ENST00000614701.4:c.1341G>C	ENSP00000482885.1:p.Leu447Phe
ENST00000616559.4:c.1467G>C	ENSP00000483259.1:p.Leu489Phe
NM_001145026.1:c.1341G>C	NP_001138498.1:p.Leu447Phe
XM_011538290.1:c.1341G>C	XP_011536592.1:p.Leu447Phe
XM_017019273.1:c.2007G>C	XP_016874762.1:p.Leu669Phe
XM_017019274.1:c.2007G>C	XP_016874763.1:p.Leu669Phe
XM_017019275.1:c.2007G>C	XP_016874764.1:p.Leu669Phe
XR_001748688.1:n.2144G>C
XR_001748689.1:n.2144G>C
NM_001145026.2:c.1341G>C MANE Select	NP_001138498.1:p.Leu447Phe