Canonical Allele Identifier: CA403489202
Gene: TICAM1 HGNC NCBI

Linked Data

gnomAD v4: 19-4816761-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816761C>T , CM000681.2:g.4816761C>T GRCh38
NC_000019.9:g.4816773C>T , CM000681.1:g.4816773C>T GRCh37
NC_000019.8:g.4767773C>T NCBI36
NG_031998.1:g.19982G>A , LRG_358:g.19982G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1617G>A MANE Select ENSP00000248244.4:p.Met539Ile
ENST00000248244.5:c.1617G>A ENSP00000248244.4:p.Met539Ile
ENST00000621756.1:c.1200G>A ENSP00000479467.1:p.Met400Ile
NM_182919.3:c.1617G>A , LRG_358t1:c.1617G>A NP_891549.1:p.Met539Ile
NM_001385678.1:c.1575G>A NP_001372607.1:p.Met525Ile
NM_001385679.1:c.1482G>A NP_001372608.1:p.Met494Ile
NM_001385680.1:c.975G>A NP_001372609.1:p.Met325Ile
NM_182919.4:c.1617G>A MANE Select NP_891549.1:p.Met539Ile