Canonical Allele Identifier: CA403488720
Gene: TICAM1 HGNC NCBI

Linked Data

dbSNP Id: rs1380324887
gnomAD v3: 19-4816543-T-A
gnomAD v4: 19-4816543-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816543T>A , CM000681.2:g.4816543T>A GRCh38
NC_000019.9:g.4816555T>A , CM000681.1:g.4816555T>A GRCh37
NC_000019.8:g.4767555T>A NCBI36
NG_031998.1:g.20200A>T , LRG_358:g.20200A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1835A>T MANE Select ENSP00000248244.4:p.Gln612Leu
ENST00000248244.5:c.1835A>T ENSP00000248244.4:p.Gln612Leu
ENST00000621756.1:c.1418A>T ENSP00000479467.1:p.Gln473Leu
NM_182919.3:c.1835A>T , LRG_358t1:c.1835A>T NP_891549.1:p.Gln612Leu
NM_001385678.1:c.1793A>T NP_001372607.1:p.Gln598Leu
NM_001385679.1:c.1700A>T NP_001372608.1:p.Gln567Leu
NM_001385680.1:c.1193A>T NP_001372609.1:p.Gln398Leu
NM_182919.4:c.1835A>T MANE Select NP_891549.1:p.Gln612Leu