Canonical Allele Identifier: CA9105098
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs376286418
gnomAD v2: 19-4816775-T-C
gnomAD v3: 19-4816763-T-C
gnomAD v4: 19-4816763-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816763T>C , CM000681.2:g.4816763T>C GRCh38
NC_000019.9:g.4816775T>C , CM000681.1:g.4816775T>C GRCh37
NC_000019.8:g.4767775T>C NCBI36
NG_031998.1:g.19980A>G , LRG_358:g.19980A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1615A>G MANE Select ENSP00000248244.4:p.Met539Val
ENST00000248244.5:c.1615A>G ENSP00000248244.4:p.Met539Val
ENST00000621756.1:c.1198A>G ENSP00000479467.1:p.Met400Val
NM_182919.3:c.1615A>G , LRG_358t1:c.1615A>G NP_891549.1:p.Met539Val
NM_001385678.1:c.1573A>G NP_001372607.1:p.Met525Val
NM_001385679.1:c.1480A>G NP_001372608.1:p.Met494Val
NM_001385680.1:c.973A>G NP_001372609.1:p.Met325Val
NM_182919.4:c.1615A>G MANE Select NP_891549.1:p.Met539Val