Canonical Allele Identifier: CA6702771
Community Standard Title: NM_001145026.2(PTPRQ):c.4870G>T (p.Val1624Leu)
Gene: PTPRQ HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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