Canonical Allele Identifier: CA403488543
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2132866
ClinVar RCV Id: RCV003063897
gnomAD v4: 19-4816454-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816454G>T , CM000681.2:g.4816454G>T GRCh38
NC_000019.9:g.4816466G>T , CM000681.1:g.4816466G>T GRCh37
NC_000019.8:g.4767466G>T NCBI36
NG_031998.1:g.20289C>A , LRG_358:g.20289C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1924C>A MANE Select ENSP00000248244.4:p.Pro642Thr
ENST00000248244.5:c.1924C>A ENSP00000248244.4:p.Pro642Thr
ENST00000621756.1:c.1479+28C>A ENSP00000479467.1:n.1479+28C>A
NM_182919.3:c.1924C>A , LRG_358t1:c.1924C>A NP_891549.1:p.Pro642Thr
NM_001385678.1:c.1882C>A NP_001372607.1:p.Pro628Thr
NM_001385679.1:c.1789C>A NP_001372608.1:p.Pro597Thr
NM_001385680.1:c.1282C>A NP_001372609.1:p.Pro428Thr
NM_182919.4:c.1924C>A MANE Select NP_891549.1:p.Pro642Thr