Canonical Allele Identifier: CA403489694
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062954
ClinVar RCV Id: RCV001372735
dbSNP Id: rs1256701940
gnomAD v4: 19-4816957-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816957A>C , CM000681.2:g.4816957A>C GRCh38
NC_000019.9:g.4816969A>C , CM000681.1:g.4816969A>C GRCh37
NC_000019.8:g.4767969A>C NCBI36
NG_031998.1:g.19786T>G , LRG_358:g.19786T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1421T>G MANE Select ENSP00000248244.4:p.Met474Arg
ENST00000248244.5:c.1421T>G ENSP00000248244.4:p.Met474Arg
ENST00000621756.1:c.1004T>G ENSP00000479467.1:p.Met335Arg
NM_182919.3:c.1421T>G , LRG_358t1:c.1421T>G NP_891549.1:p.Met474Arg
NM_001385678.1:c.1379T>G NP_001372607.1:p.Met460Arg
NM_001385679.1:c.1286T>G NP_001372608.1:p.Met429Arg
NM_001385680.1:c.779T>G NP_001372609.1:p.Met260Arg
NM_182919.4:c.1421T>G MANE Select NP_891549.1:p.Met474Arg