Canonical Allele Identifier: CA1947586133
Gene: TOLLIP HGNC NCBI

Linked Data

dbSNP Id: rs1864306749

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1302364T>A , CM000673.2:g.1302364T>A GRCh38
NC_000011.9:g.1323594T>A , CM000673.1:g.1323594T>A GRCh37
NC_000011.8:g.1280170T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317204.11:c.34-6570A>T MANE Select ENSP00000314733.5:n.34-6570A>T
ENST00000263646.11:c.13-6633A>T ENSP00000263646.6:n.13-6633A>T
ENST00000317204.10:c.34-6570A>T ENSP00000314733.5:n.34-6570A>T
ENST00000525159.5:c.34-6570A>T ENSP00000432668.1:n.34-6570A>T
ENST00000527085.1:n.180-3800A>T
ENST00000527638.1:n.133-6570A>T
ENST00000527746.5:n.126-6570A>T
ENST00000527886.5:c.-175+220A>T ENSP00000434035.1:n.-175+220A>T
ENST00000527938.5:c.34-6570A>T ENSP00000432778.1:n.34-6570A>T
ENST00000530506.5:c.33+7102A>T ENSP00000436393.1:n.33+7102A>T
ENST00000530541.1:c.33+7102A>T ENSP00000434494.1:n.33+7102A>T
ENST00000530821.1:n.372+3459A>T
ENST00000532551.1:n.159-6570A>T
NM_019009.3:c.34-6570A>T NP_061882.2:n.34-6570A>T
XM_011520192.1:c.-175+220A>T XP_011518494.1:n.-175+220A>T
XR_930968.1:n.211A>T
NM_001318512.1:c.33+7102A>T NP_001305441.1:n.33+7102A>T
NM_001318514.1:c.-175+220A>T NP_001305443.1:n.-175+220A>T
NM_001318515.1:c.34-6570A>T NP_001305444.1:n.34-6570A>T
NM_001318516.1:c.34-6570A>T NP_001305445.1:n.34-6570A>T
XR_001747910.2:n.159-6570A>T
XR_930968.2:n.213A>T
NM_019009.4:c.34-6570A>T MANE Select NP_061882.2:n.34-6570A>T
NM_001318512.2:c.33+7102A>T NP_001305441.1:n.33+7102A>T
NM_001318515.2:c.34-6570A>T NP_001305444.1:n.34-6570A>T
NM_001318516.2:c.34-6570A>T NP_001305445.1:n.34-6570A>T
NM_001318514.2:c.-175+220A>T NP_001305443.1:n.-175+220A>T