Canonical Allele Identifier: CA505174326
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs1417303430
gnomAD v3: 19-4816620-C-T
gnomAD v4: 19-4816620-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816620C>T , CM000681.2:g.4816620C>T GRCh38
NC_000019.9:g.4816632C>T , CM000681.1:g.4816632C>T GRCh37
NC_000019.8:g.4767632C>T NCBI36
NG_031998.1:g.20123G>A , LRG_358:g.20123G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1758G>A MANE Select ENSP00000248244.4:p.Gln586=
ENST00000248244.5:c.1758G>A ENSP00000248244.4:p.Gln586=
ENST00000621756.1:c.1341G>A ENSP00000479467.1:p.Gln447=
NM_182919.3:c.1758G>A , LRG_358t1:c.1758G>A NP_891549.1:p.Gln586=
NM_001385678.1:c.1716G>A NP_001372607.1:p.Gln572=
NM_001385679.1:c.1623G>A NP_001372608.1:p.Gln541=
NM_001385680.1:c.1116G>A NP_001372609.1:p.Gln372=
NM_182919.4:c.1758G>A MANE Select NP_891549.1:p.Gln586=