Canonical Allele Identifier: CA1947581741
Community Standard Title: NM_019009.4(TOLLIP):c.417G= (p.Pro139=)
Gene: TOLLIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1288726C= , CM000673.2:g.1288726C= GRCh38
NC_000011.9:g.1309956C= , CM000673.1:g.1309956C= GRCh37
NC_000011.8:g.1266532C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_019009.4:c.417G= MANE Select NP_061882.2:p.Pro139=
ENST00000317204.11:c.417G= MANE Select ENSP00000314733.5:p.Pro139=
NM_001318512.1:c.267G= NP_001305441.1:p.Pro89=
NM_001318512.2:c.267G= NP_001305441.1:p.Pro89=
NM_001318514.1:c.210G= NP_001305443.1:p.Pro70=
NM_001318514.2:c.210G= NP_001305443.1:p.Pro70=
NM_001318515.1:c.183+6919G= NP_001305444.1:n.183+6919G=
NM_001318515.2:c.183+6919G= NP_001305444.1:n.183+6919G=
NM_001318516.1:c.234G= NP_001305445.1:p.Pro78=
NM_001318516.2:c.234G= NP_001305445.1:p.Pro78=
NM_019009.3:c.417G= NP_061882.2:p.Pro139=
ENST00000263646.11:c.333G= ENSP00000263646.6:p.Pro111=
ENST00000317204.10:c.417G= ENSP00000314733.5:p.Pro139=
ENST00000525159.5:c.234G= ENSP00000432668.1:p.Pro78=
ENST00000527886.5:c.210G= ENSP00000434035.1:p.Pro70=
ENST00000527938.5:c.183+6919G= ENSP00000432778.1:n.183+6919G=
ENST00000528719.1:n.579G=
ENST00000530506.5:c.267G= ENSP00000436393.1:p.Pro89=
ENST00000530541.1:c.267G= ENSP00000434494.1:p.Pro89=
XM_011520192.1:c.210G= XP_011518494.1:p.Pro70=
XM_017017931.1:c.39G= XP_016873420.1:p.Pro13=
XR_001747910.2:n.1873G=