Canonical Allele Identifier: CA6702530
Gene: PTPRQ HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80506078T>C , CM000674.2:g.80506078T>C GRCh38
NC_000012.11:g.80899857T>C , CM000674.1:g.80899857T>C GRCh37
NC_000012.10:g.79423988T>C NCBI36
NG_034052.1:g.66733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.2327T>C MANE Select ENSP00000495607.1:p.Ile776Thr
ENST00000614701.4:c.2327T>C ENSP00000482885.1:p.Ile776Thr
ENST00000616559.4:c.2453T>C ENSP00000483259.1:p.Ile818Thr
NM_001145026.1:c.2327T>C NP_001138498.1:p.Ile776Thr
XM_011538290.1:c.2327T>C XP_011536592.1:p.Ile776Thr
XR_945144.1:n.737+7256A>G
XM_017019273.1:c.2993T>C XP_016874762.1:p.Ile998Thr
XM_017019274.1:c.2993T>C XP_016874763.1:p.Ile998Thr
XM_017019275.1:c.2993T>C XP_016874764.1:p.Ile998Thr
XR_001748688.1:n.3130T>C
XR_001748689.1:n.3130T>C
NM_001145026.2:c.2327T>C MANE Select NP_001138498.1:p.Ile776Thr