Canonical Allele Identifier: CA385875791
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460675G>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460675G>C , CM000674.2:g.80460675G>C GRCh38
NC_000012.11:g.80849502C>G , CM000674.1:g.80849502C>G GRCh37
NC_000012.10:g.79373633C>G NCBI36
NG_034052.1:g.21330G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.683G>C MANE Select ENSP00000495607.1:p.Trp228Ser
ENST00000614701.4:c.683G>C ENSP00000482885.1:p.Trp228Ser
ENST00000616559.4:c.809G>C ENSP00000483259.1:p.Trp270Ser
NM_001145026.1:c.683G>C NP_001138498.1:p.Trp228Ser
XM_011538290.1:c.683G>C XP_011536592.1:p.Trp228Ser
XM_017019273.1:c.1349G>C XP_016874762.1:p.Trp450Ser
XM_017019274.1:c.1349G>C XP_016874763.1:p.Trp450Ser
XM_017019275.1:c.1349G>C XP_016874764.1:p.Trp450Ser
XR_001748688.1:n.1486G>C
XR_001748689.1:n.1486G>C
NM_001145026.2:c.683G>C MANE Select NP_001138498.1:p.Trp228Ser