Canonical Allele Identifier: CA2500897297
Gene: TOLLIP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1302282G>T , CM000673.2:g.1302282G>T GRCh38
NC_000011.9:g.1323512G>T , CM000673.1:g.1323512G>T GRCh37
NC_000011.8:g.1280088G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000317204.11:c.34-6488C>A MANE Select ENSP00000314733.5:n.34-6488C>A
ENST00000263646.11:c.13-6551C>A ENSP00000263646.6:n.13-6551C>A
ENST00000317204.10:c.34-6488C>A ENSP00000314733.5:n.34-6488C>A
ENST00000525159.5:c.34-6488C>A ENSP00000432668.1:n.34-6488C>A
ENST00000527085.1:n.180-3718C>A
ENST00000527638.1:n.133-6488C>A
ENST00000527746.5:n.126-6488C>A
ENST00000527886.5:c.-175+302C>A ENSP00000434035.1:n.-175+302C>A
ENST00000527938.5:c.34-6488C>A ENSP00000432778.1:n.34-6488C>A
ENST00000530506.5:c.33+7184C>A ENSP00000436393.1:n.33+7184C>A
ENST00000530541.1:c.33+7184C>A ENSP00000434494.1:n.33+7184C>A
ENST00000530821.1:n.372+3541C>A
ENST00000532551.1:n.159-6488C>A
NM_019009.3:c.34-6488C>A NP_061882.2:n.34-6488C>A
XM_011520192.1:c.-175+302C>A XP_011518494.1:n.-175+302C>A
XR_930968.1:n.293C>A
NM_001318512.1:c.33+7184C>A NP_001305441.1:n.33+7184C>A
NM_001318514.1:c.-175+302C>A NP_001305443.1:n.-175+302C>A
NM_001318515.1:c.34-6488C>A NP_001305444.1:n.34-6488C>A
NM_001318516.1:c.34-6488C>A NP_001305445.1:n.34-6488C>A
XR_001747910.2:n.159-6488C>A
XR_930968.2:n.295C>A
NM_019009.4:c.34-6488C>A MANE Select NP_061882.2:n.34-6488C>A
NM_001318512.2:c.33+7184C>A NP_001305441.1:n.33+7184C>A
NM_001318515.2:c.34-6488C>A NP_001305444.1:n.34-6488C>A
NM_001318516.2:c.34-6488C>A NP_001305445.1:n.34-6488C>A
NM_001318514.2:c.-175+302C>A NP_001305443.1:n.-175+302C>A