Canonical Allele Identifier: CA2580981344

Gene: TOLLIP

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1307121G>T , CM000673.2:g.1307121G>T	GRCh38
NC_000011.9:g.1328351G>T , CM000673.1:g.1328351G>T	GRCh37
NC_000011.8:g.1284927G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_019009.4:c.33+2345C>A MANE Select	NP_061882.2:n.33+2345C>A
ENST00000317204.11:c.33+2345C>A MANE Select	ENSP00000314733.5:n.33+2345C>A
NM_001318512.1:c.33+2345C>A	NP_001305441.1:n.33+2345C>A
NM_001318512.2:c.33+2345C>A	NP_001305441.1:n.33+2345C>A
NM_001318515.1:c.33+2345C>A	NP_001305444.1:n.33+2345C>A
NM_001318515.2:c.33+2345C>A	NP_001305444.1:n.33+2345C>A
NM_001318516.1:c.33+2345C>A	NP_001305445.1:n.33+2345C>A
NM_001318516.2:c.33+2345C>A	NP_001305445.1:n.33+2345C>A
NM_019009.3:c.33+2345C>A	NP_061882.2:n.33+2345C>A
ENST00000263646.11:c.12+2366C>A	ENSP00000263646.6:n.12+2366C>A
ENST00000317204.10:c.33+2345C>A	ENSP00000314733.5:n.33+2345C>A
ENST00000525159.5:c.33+2345C>A	ENSP00000432668.1:n.33+2345C>A
ENST00000527085.1:n.179+2345C>A
ENST00000527638.1:n.132+2345C>A
ENST00000527746.5:n.125+2345C>A
ENST00000527938.5:c.33+2345C>A	ENSP00000432778.1:n.33+2345C>A
ENST00000530506.5:c.33+2345C>A	ENSP00000436393.1:n.33+2345C>A
ENST00000530541.1:c.33+2345C>A	ENSP00000434494.1:n.33+2345C>A
ENST00000532551.1:n.158+2345C>A
XR_001747910.2:n.158+2345C>A