Canonical Allele Identifier: CA9105133
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1960286
ClinVar RCV Id: RCV002706402
dbSNP Id: rs765583204
ExAC: 19:4816944 C / T
gnomAD v2: 19-4816944-C-T
gnomAD v4: 19-4816932-C-T
COSMIC: COSM3106553
MyVariant Identifiers: chr19:g.4816944C>T (hg19) chr19:g.4816932C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816932C>T , CM000681.2:g.4816932C>T GRCh38
NC_000019.9:g.4816944C>T , CM000681.1:g.4816944C>T GRCh37
NC_000019.8:g.4767944C>T NCBI36
NG_031998.1:g.19811G>A , LRG_358:g.19811G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1446G>A MANE Select ENSP00000248244.4:p.Ser482=
ENST00000248244.5:c.1446G>A ENSP00000248244.4:p.Ser482=
ENST00000621756.1:c.1029G>A ENSP00000479467.1:p.Ser343=
NM_182919.3:c.1446G>A , LRG_358t1:c.1446G>A NP_891549.1:p.Ser482=
NM_001385678.1:c.1404G>A NP_001372607.1:p.Ser468=
NM_001385679.1:c.1311G>A NP_001372608.1:p.Ser437=
NM_001385680.1:c.804G>A NP_001372609.1:p.Ser268=
NM_182919.4:c.1446G>A MANE Select NP_891549.1:p.Ser482=
Search 100 bp 5'
Search 100 bp 3'