Canonical Allele Identifier: CA385876079
Gene: PTPRQ HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.718G>A MANE Select ENSP00000495607.1:p.Val240Ile
ENST00000614701.4:c.718G>A ENSP00000482885.1:p.Val240Ile
ENST00000616559.4:c.844G>A ENSP00000483259.1:p.Val282Ile
NM_001145026.1:c.718G>A NP_001138498.1:p.Val240Ile
XM_011538290.1:c.718G>A XP_011536592.1:p.Val240Ile
XM_017019273.1:c.1384G>A XP_016874762.1:p.Val462Ile
XM_017019274.1:c.1384G>A XP_016874763.1:p.Val462Ile
XM_017019275.1:c.1384G>A XP_016874764.1:p.Val462Ile
XR_001748688.1:n.1521G>A
XR_001748689.1:n.1521G>A
NM_001145026.2:c.718G>A MANE Select NP_001138498.1:p.Val240Ile