Canonical Allele Identifier: CA1947588359
Gene: TOLLIP HGNC NCBI

Linked Data

dbSNP Id: rs1564981227

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1304625G>A , CM000673.2:g.1304625G>A GRCh38
NC_000011.9:g.1325855G>A , CM000673.1:g.1325855G>A GRCh37
NC_000011.8:g.1282431G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317204.11:c.33+4841C>T MANE Select ENSP00000314733.5:n.33+4841C>T
ENST00000263646.11:c.12+4862C>T ENSP00000263646.6:n.12+4862C>T
ENST00000317204.10:c.33+4841C>T ENSP00000314733.5:n.33+4841C>T
ENST00000525159.5:c.33+4841C>T ENSP00000432668.1:n.33+4841C>T
ENST00000527085.1:n.179+4841C>T
ENST00000527638.1:n.132+4841C>T
ENST00000527746.5:n.125+4841C>T
ENST00000527938.5:c.33+4841C>T ENSP00000432778.1:n.33+4841C>T
ENST00000530506.5:c.33+4841C>T ENSP00000436393.1:n.33+4841C>T
ENST00000530541.1:c.33+4841C>T ENSP00000434494.1:n.33+4841C>T
ENST00000530821.1:n.372+1198C>T
ENST00000532551.1:n.158+4841C>T
NM_019009.3:c.33+4841C>T NP_061882.2:n.33+4841C>T
NM_001318512.1:c.33+4841C>T NP_001305441.1:n.33+4841C>T
NM_001318515.1:c.33+4841C>T NP_001305444.1:n.33+4841C>T
NM_001318516.1:c.33+4841C>T NP_001305445.1:n.33+4841C>T
XR_001747910.2:n.158+4841C>T
NM_019009.4:c.33+4841C>T MANE Select NP_061882.2:n.33+4841C>T
NM_001318512.2:c.33+4841C>T NP_001305441.1:n.33+4841C>T
NM_001318515.2:c.33+4841C>T NP_001305444.1:n.33+4841C>T
NM_001318516.2:c.33+4841C>T NP_001305445.1:n.33+4841C>T