Canonical Allele Identifier: CA480815527
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80878333T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80484554T>G , CM000674.2:g.80484554T>G GRCh38
NC_000012.11:g.80878333T>G , CM000674.1:g.80878333T>G GRCh37
NC_000012.10:g.79402464T>G NCBI36
NG_034052.1:g.45209T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.1308T>G MANE Select ENSP00000495607.1:p.Val436=
ENST00000614701.4:c.1308T>G ENSP00000482885.1:p.Val436=
ENST00000616559.4:c.1434T>G ENSP00000483259.1:p.Val478=
NM_001145026.1:c.1308T>G NP_001138498.1:p.Val436=
XM_011538290.1:c.1308T>G XP_011536592.1:p.Val436=
XM_017019273.1:c.1974T>G XP_016874762.1:p.Val658=
XM_017019274.1:c.1974T>G XP_016874763.1:p.Val658=
XM_017019275.1:c.1974T>G XP_016874764.1:p.Val658=
XR_001748688.1:n.2111T>G
XR_001748689.1:n.2111T>G
NM_001145026.2:c.1308T>G MANE Select NP_001138498.1:p.Val436=