Canonical Allele Identifier: CA385876082
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460710G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460710G>T , CM000674.2:g.80460710G>T GRCh38
NC_000012.11:g.80849467C>A , CM000674.1:g.80849467C>A GRCh37
NC_000012.10:g.79373598C>A NCBI36
NG_034052.1:g.21365G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.718G>T MANE Select ENSP00000495607.1:p.Val240Phe
ENST00000614701.4:c.718G>T ENSP00000482885.1:p.Val240Phe
ENST00000616559.4:c.844G>T ENSP00000483259.1:p.Val282Phe
NM_001145026.1:c.718G>T NP_001138498.1:p.Val240Phe
XM_011538290.1:c.718G>T XP_011536592.1:p.Val240Phe
XM_017019273.1:c.1384G>T XP_016874762.1:p.Val462Phe
XM_017019274.1:c.1384G>T XP_016874763.1:p.Val462Phe
XM_017019275.1:c.1384G>T XP_016874764.1:p.Val462Phe
XR_001748688.1:n.1521G>T
XR_001748689.1:n.1521G>T
NM_001145026.2:c.718G>T MANE Select NP_001138498.1:p.Val240Phe