Canonical Allele Identifier: CA385875819

Gene: PTPRQ

Linked Data

• MyVariant Identifiers: chr12:g.80460676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80460676G>C , CM000674.2:g.80460676G>C	GRCh38
NC_000012.11:g.80849501C>G , CM000674.1:g.80849501C>G	GRCh37
NC_000012.10:g.79373632C>G	NCBI36
NG_034052.1:g.21331G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.684G>C MANE Select	ENSP00000495607.1:p.Trp228Cys
ENST00000614701.4:c.684G>C	ENSP00000482885.1:p.Trp228Cys
ENST00000616559.4:c.810G>C	ENSP00000483259.1:p.Trp270Cys
NM_001145026.1:c.684G>C	NP_001138498.1:p.Trp228Cys
XM_011538290.1:c.684G>C	XP_011536592.1:p.Trp228Cys
XM_017019273.1:c.1350G>C	XP_016874762.1:p.Trp450Cys
XM_017019274.1:c.1350G>C	XP_016874763.1:p.Trp450Cys
XM_017019275.1:c.1350G>C	XP_016874764.1:p.Trp450Cys
XR_001748688.1:n.1487G>C
XR_001748689.1:n.1487G>C
NM_001145026.2:c.684G>C MANE Select	NP_001138498.1:p.Trp228Cys