Canonical Allele Identifier: CA385876151
Gene: PTPRQ HGNC NCBI

Linked Data

dbSNP Id: rs1191475251
MyVariant Identifiers: chr12:g.80460723C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80460723C>G , CM000674.2:g.80460723C>G GRCh38
NC_000012.11:g.80849454G>C , CM000674.1:g.80849454G>C GRCh37
NC_000012.10:g.79373585G>C NCBI36
NG_034052.1:g.21378C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644991.3:c.731C>G MANE Select ENSP00000495607.1:p.Ser244Trp
ENST00000614701.4:c.731C>G ENSP00000482885.1:p.Ser244Trp
ENST00000616559.4:c.857C>G ENSP00000483259.1:p.Ser286Trp
NM_001145026.1:c.731C>G NP_001138498.1:p.Ser244Trp
XM_011538290.1:c.731C>G XP_011536592.1:p.Ser244Trp
XM_017019273.1:c.1397C>G XP_016874762.1:p.Ser466Trp
XM_017019274.1:c.1397C>G XP_016874763.1:p.Ser466Trp
XM_017019275.1:c.1397C>G XP_016874764.1:p.Ser466Trp
XR_001748688.1:n.1534C>G
XR_001748689.1:n.1534C>G
NM_001145026.2:c.731C>G MANE Select NP_001138498.1:p.Ser244Trp