Canonical Allele Identifier: CA1947589919
Community Standard Title: NM_019009.4(TOLLIP):c.33+2345C=
Gene: TOLLIP HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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