Canonical Allele Identifier: CA385939517
Community Standard Title: NM_001145026.2(PTPRQ):c.4870G>C (p.Val1624Leu)
Gene: PTPRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80610577G>C , CM000674.2:g.80610577G>C GRCh38
NC_000012.11:g.81004356G>C , CM000674.1:g.81004356G>C GRCh37
NC_000012.10:g.79528487G>C NCBI36
NG_034052.1:g.171232G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001145026.2:c.4870G>C MANE Select NP_001138498.1:p.Val1624Leu
ENST00000644991.3:c.4870G>C MANE Select ENSP00000495607.1:p.Val1624Leu
NM_001145026.1:c.4870G>C NP_001138498.1:p.Val1624Leu
ENST00000614701.4:c.4870G>C ENSP00000482885.1:p.Val1624Leu
ENST00000616559.4:c.4996G>C ENSP00000483259.1:p.Val1666Leu
XM_011538290.1:c.4870G>C XP_011536592.1:p.Val1624Leu
XM_017019273.1:c.5536G>C XP_016874762.1:p.Val1846Leu
XM_017019274.1:c.5536G>C XP_016874763.1:p.Val1846Leu
XM_017019275.1:c.5536G>C XP_016874764.1:p.Val1846Leu
XR_001748688.1:n.5673G>C
XR_001748689.1:n.5673G>C
XR_001749222.1:n.121-30168C>G