Canonical Allele Identifier: CA9105085
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403540
dbSNP Id: rs2292151
gnomAD v2: 19-4816719-G-A
gnomAD v3: 19-4816707-G-A
gnomAD v4: 19-4816707-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816707G>A , CM000681.2:g.4816707G>A GRCh38
NC_000019.9:g.4816719G>A , CM000681.1:g.4816719G>A GRCh37
NC_000019.8:g.4767719G>A NCBI36
NG_031998.1:g.20036C>T , LRG_358:g.20036C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000248244.6:c.1671C>T MANE Select ENSP00000248244.4:p.Asp557=
ENST00000248244.5:c.1671C>T ENSP00000248244.4:p.Asp557=
ENST00000621756.1:c.1254C>T ENSP00000479467.1:p.Asp418=
NM_182919.3:c.1671C>T , LRG_358t1:c.1671C>T NP_891549.1:p.Asp557=
NM_001385678.1:c.1629C>T NP_001372607.1:p.Asp543=
NM_001385679.1:c.1536C>T NP_001372608.1:p.Asp512=
NM_001385680.1:c.1029C>T NP_001372609.1:p.Asp343=
NM_182919.4:c.1671C>T MANE Select NP_891549.1:p.Asp557=