Canonical Allele Identifier: CA385884266

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1214020136
• gnomAD v3: 12-80484601-A-C
• gnomAD v4: 12-80484601-A-C
• MyVariant Identifiers: chr12:g.80878380A>C (hg19) ; chr12:g.80484601A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484601A>C , CM000674.2:g.80484601A>C	GRCh38
NC_000012.11:g.80878380A>C , CM000674.1:g.80878380A>C	GRCh37
NC_000012.10:g.79402511A>C	NCBI36
NG_034052.1:g.45256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1355A>C MANE Select	ENSP00000495607.1:p.Asn452Thr
ENST00000614701.4:c.1355A>C	ENSP00000482885.1:p.Asn452Thr
ENST00000616559.4:c.1481A>C	ENSP00000483259.1:p.Asn494Thr
NM_001145026.1:c.1355A>C	NP_001138498.1:p.Asn452Thr
XM_011538290.1:c.1355A>C	XP_011536592.1:p.Asn452Thr
XM_017019273.1:c.2021A>C	XP_016874762.1:p.Asn674Thr
XM_017019274.1:c.2021A>C	XP_016874763.1:p.Asn674Thr
XM_017019275.1:c.2021A>C	XP_016874764.1:p.Asn674Thr
XR_001748688.1:n.2158A>C
XR_001748689.1:n.2158A>C
NM_001145026.2:c.1355A>C MANE Select	NP_001138498.1:p.Asn452Thr