Canonical Allele Identifier: CA403489877

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816999-A-C
• MyVariant Identifiers: chr19:g.4817011A>C (hg19) ; chr19:g.4816999A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816999A>C , CM000681.2:g.4816999A>C	GRCh38
NC_000019.9:g.4817011A>C , CM000681.1:g.4817011A>C	GRCh37
NC_000019.8:g.4768011A>C	NCBI36
NG_031998.1:g.19744T>G , LRG_358:g.19744T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1379T>G MANE Select	ENSP00000248244.4:p.Phe460Cys
ENST00000248244.5:c.1379T>G	ENSP00000248244.4:p.Phe460Cys
ENST00000621756.1:c.962T>G	ENSP00000479467.1:p.Phe321Cys
NM_182919.3:c.1379T>G , LRG_358t1:c.1379T>G	NP_891549.1:p.Phe460Cys
NM_001385678.1:c.1337T>G	NP_001372607.1:p.Phe446Cys
NM_001385679.1:c.1244T>G	NP_001372608.1:p.Phe415Cys
NM_001385680.1:c.737T>G	NP_001372609.1:p.Phe246Cys
NM_182919.4:c.1379T>G MANE Select	NP_891549.1:p.Phe460Cys