Canonical Allele Identifier: CA480815665

Gene: PTPRQ

Linked Data

• dbSNP Id: rs1894211815
• gnomAD v4: 12-80484602-T-C
• MyVariant Identifiers: chr12:g.80878381T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.80484602T>C , CM000674.2:g.80484602T>C	GRCh38
NC_000012.11:g.80878381T>C , CM000674.1:g.80878381T>C	GRCh37
NC_000012.10:g.79402512T>C	NCBI36
NG_034052.1:g.45257T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644991.3:c.1356T>C MANE Select	ENSP00000495607.1:p.Asn452=
ENST00000614701.4:c.1356T>C	ENSP00000482885.1:p.Asn452=
ENST00000616559.4:c.1482T>C	ENSP00000483259.1:p.Asn494=
NM_001145026.1:c.1356T>C	NP_001138498.1:p.Asn452=
XM_011538290.1:c.1356T>C	XP_011536592.1:p.Asn452=
XM_017019273.1:c.2022T>C	XP_016874762.1:p.Asn674=
XM_017019274.1:c.2022T>C	XP_016874763.1:p.Asn674=
XM_017019275.1:c.2022T>C	XP_016874764.1:p.Asn674=
XR_001748688.1:n.2159T>C
XR_001748689.1:n.2159T>C
NM_001145026.2:c.1356T>C MANE Select	NP_001138498.1:p.Asn452=