Canonical Allele Identifier: CA385875874
Gene: PTPRQ HGNC NCBI

Linked Data

dbSNP Id: rs1893133372
MyVariant Identifiers: chr12:g.80460681C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460681C>T , CM000674.2:g.80460681C>T GRCh38
NC_000012.11:g.80849496G>A , CM000674.1:g.80849496G>A GRCh37
NC_000012.10:g.79373627G>A NCBI36
NG_034052.1:g.21336C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.689C>T MANE Select ENSP00000495607.1:p.Thr230Ile
ENST00000614701.4:c.689C>T ENSP00000482885.1:p.Thr230Ile
ENST00000616559.4:c.815C>T ENSP00000483259.1:p.Thr272Ile
NM_001145026.1:c.689C>T NP_001138498.1:p.Thr230Ile
XM_011538290.1:c.689C>T XP_011536592.1:p.Thr230Ile
XM_017019273.1:c.1355C>T XP_016874762.1:p.Thr452Ile
XM_017019274.1:c.1355C>T XP_016874763.1:p.Thr452Ile
XM_017019275.1:c.1355C>T XP_016874764.1:p.Thr452Ile
XR_001748688.1:n.1492C>T
XR_001748689.1:n.1492C>T
NM_001145026.2:c.689C>T MANE Select NP_001138498.1:p.Thr230Ile