Canonical Allele Identifier: CA385875682
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460666C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460666C>T , CM000674.2:g.80460666C>T GRCh38
NC_000012.11:g.80849511G>A , CM000674.1:g.80849511G>A GRCh37
NC_000012.10:g.79373642G>A NCBI36
NG_034052.1:g.21321C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.674C>T MANE Select ENSP00000495607.1:p.Ser225Phe
ENST00000614701.4:c.674C>T ENSP00000482885.1:p.Ser225Phe
ENST00000616559.4:c.800C>T ENSP00000483259.1:p.Ser267Phe
NM_001145026.1:c.674C>T NP_001138498.1:p.Ser225Phe
XM_011538290.1:c.674C>T XP_011536592.1:p.Ser225Phe
XM_017019273.1:c.1340C>T XP_016874762.1:p.Ser447Phe
XM_017019274.1:c.1340C>T XP_016874763.1:p.Ser447Phe
XM_017019275.1:c.1340C>T XP_016874764.1:p.Ser447Phe
XR_001748688.1:n.1477C>T
XR_001748689.1:n.1477C>T
NM_001145026.2:c.674C>T MANE Select NP_001138498.1:p.Ser225Phe