Canonical Allele Identifier: CA385876219
Gene: PTPRQ HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.80460738C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460738C>G , CM000674.2:g.80460738C>G GRCh38
NC_000012.11:g.80849439G>C , CM000674.1:g.80849439G>C GRCh37
NC_000012.10:g.79373570G>C NCBI36
NG_034052.1:g.21393C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.746C>G MANE Select ENSP00000495607.1:p.Ser249Ter
ENST00000614701.4:c.746C>G ENSP00000482885.1:p.Ser249Ter
ENST00000616559.4:c.872C>G ENSP00000483259.1:p.Ser291Ter
NM_001145026.1:c.746C>G NP_001138498.1:p.Ser249Ter
XM_011538290.1:c.746C>G XP_011536592.1:p.Ser249Ter
XM_017019273.1:c.1412C>G XP_016874762.1:p.Ser471Ter
XM_017019274.1:c.1412C>G XP_016874763.1:p.Ser471Ter
XM_017019275.1:c.1412C>G XP_016874764.1:p.Ser471Ter
XR_001748688.1:n.1549C>G
XR_001748689.1:n.1549C>G
NM_001145026.2:c.746C>G MANE Select NP_001138498.1:p.Ser249Ter