Canonical Allele Identifier: CA217029682

Gene: TOLLIP

Linked Data

• dbSNP Id: rs546181019
• gnomAD v3: 11-1302375-C-G
• gnomAD v4: 11-1302375-C-G
• MyVariant Identifiers: chr11:g.1323605C>G (hg19) ; chr11:g.1302375C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1302375C>G , CM000673.2:g.1302375C>G	GRCh38
NC_000011.9:g.1323605C>G , CM000673.1:g.1323605C>G	GRCh37
NC_000011.8:g.1280181C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317204.11:c.34-6581G>C MANE Select	ENSP00000314733.5:n.34-6581G>C
ENST00000263646.11:c.13-6644G>C	ENSP00000263646.6:n.13-6644G>C
ENST00000317204.10:c.34-6581G>C	ENSP00000314733.5:n.34-6581G>C
ENST00000525159.5:c.34-6581G>C	ENSP00000432668.1:n.34-6581G>C
ENST00000527085.1:n.180-3811G>C
ENST00000527638.1:n.133-6581G>C
ENST00000527746.5:n.126-6581G>C
ENST00000527886.5:c.-175+209G>C	ENSP00000434035.1:n.-175+209G>C
ENST00000527938.5:c.34-6581G>C	ENSP00000432778.1:n.34-6581G>C
ENST00000530506.5:c.33+7091G>C	ENSP00000436393.1:n.33+7091G>C
ENST00000530541.1:c.33+7091G>C	ENSP00000434494.1:n.33+7091G>C
ENST00000530821.1:n.372+3448G>C
ENST00000532551.1:n.159-6581G>C
NM_019009.3:c.34-6581G>C	NP_061882.2:n.34-6581G>C
XM_011520192.1:c.-175+209G>C	XP_011518494.1:n.-175+209G>C
XR_930968.1:n.200G>C
NM_001318512.1:c.33+7091G>C	NP_001305441.1:n.33+7091G>C
NM_001318514.1:c.-175+209G>C	NP_001305443.1:n.-175+209G>C
NM_001318515.1:c.34-6581G>C	NP_001305444.1:n.34-6581G>C
NM_001318516.1:c.34-6581G>C	NP_001305445.1:n.34-6581G>C
XR_001747910.2:n.159-6581G>C
XR_930968.2:n.202G>C
NM_019009.4:c.34-6581G>C MANE Select	NP_061882.2:n.34-6581G>C
NM_001318512.2:c.33+7091G>C	NP_001305441.1:n.33+7091G>C
NM_001318515.2:c.34-6581G>C	NP_001305444.1:n.34-6581G>C
NM_001318516.2:c.34-6581G>C	NP_001305445.1:n.34-6581G>C
NM_001318514.2:c.-175+209G>C	NP_001305443.1:n.-175+209G>C