Canonical Allele Identifier: CA403489850

Gene: TICAM1

Linked Data

• dbSNP Id: rs1376015491
• gnomAD v2: 19-4817006-A-G
• gnomAD v4: 19-4816994-A-G
• MyVariant Identifiers: chr19:g.4817006A>G (hg19) ; chr19:g.4817006_4817013delinsGGTCGAAG (hg19) ; chr19:g.4816994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816994A>G , CM000681.2:g.4816994A>G	GRCh38
NC_000019.9:g.4817006A>G , CM000681.1:g.4817006A>G	GRCh37
NC_000019.8:g.4768006A>G	NCBI36
NG_031998.1:g.19749T>C , LRG_358:g.19749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1384T>C MANE Select	ENSP00000248244.4:p.Cys462Arg
ENST00000248244.5:c.1384T>C	ENSP00000248244.4:p.Cys462Arg
ENST00000621756.1:c.967T>C	ENSP00000479467.1:p.Cys323Arg
NM_182919.3:c.1384T>C , LRG_358t1:c.1384T>C	NP_891549.1:p.Cys462Arg
NM_001385678.1:c.1342T>C	NP_001372607.1:p.Cys448Arg
NM_001385679.1:c.1249T>C	NP_001372608.1:p.Cys417Arg
NM_001385680.1:c.742T>C	NP_001372609.1:p.Cys248Arg
NM_182919.4:c.1384T>C MANE Select	NP_891549.1:p.Cys462Arg