Canonical Allele Identifier: CA385876047
Gene: PTPRQ HGNC NCBI

Linked Data

dbSNP Id: rs1893134184
MyVariant Identifiers: chr12:g.80460701C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460701C>T , CM000674.2:g.80460701C>T GRCh38
NC_000012.11:g.80849476G>A , CM000674.1:g.80849476G>A GRCh37
NC_000012.10:g.79373607G>A NCBI36
NG_034052.1:g.21356C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.709C>T MANE Select ENSP00000495607.1:p.Leu237Phe
ENST00000614701.4:c.709C>T ENSP00000482885.1:p.Leu237Phe
ENST00000616559.4:c.835C>T ENSP00000483259.1:p.Leu279Phe
NM_001145026.1:c.709C>T NP_001138498.1:p.Leu237Phe
XM_011538290.1:c.709C>T XP_011536592.1:p.Leu237Phe
XM_017019273.1:c.1375C>T XP_016874762.1:p.Leu459Phe
XM_017019274.1:c.1375C>T XP_016874763.1:p.Leu459Phe
XM_017019275.1:c.1375C>T XP_016874764.1:p.Leu459Phe
XR_001748688.1:n.1512C>T
XR_001748689.1:n.1512C>T
NM_001145026.2:c.709C>T MANE Select NP_001138498.1:p.Leu237Phe