Canonical Allele Identifier: CA9105074

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 651722
• ClinVar RCV Id: RCV000807139 ; RCV004028280 ; RCV003117596
• dbSNP Id: rs74359855
• ExAC: 19:4816616 C / T
• gnomAD v2: 19-4816616-C-T
• gnomAD v3: 19-4816604-C-T
• gnomAD v4: 19-4816604-C-T
• MyVariant Identifiers: chr19:g.4816616C>T (hg19) ; chr19:g.4816604C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816604C>T , CM000681.2:g.4816604C>T	GRCh38
NC_000019.9:g.4816616C>T , CM000681.1:g.4816616C>T	GRCh37
NC_000019.8:g.4767616C>T	NCBI36
NG_031998.1:g.20139G>A , LRG_358:g.20139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1774G>A MANE Select	ENSP00000248244.4:p.Gly592Arg
ENST00000248244.5:c.1774G>A	ENSP00000248244.4:p.Gly592Arg
ENST00000621756.1:c.1357G>A	ENSP00000479467.1:p.Gly453Arg
NM_182919.3:c.1774G>A , LRG_358t1:c.1774G>A	NP_891549.1:p.Gly592Arg
NM_001385678.1:c.1732G>A	NP_001372607.1:p.Gly578Arg
NM_001385679.1:c.1639G>A	NP_001372608.1:p.Gly547Arg
NM_001385680.1:c.1132G>A	NP_001372609.1:p.Gly378Arg
NM_182919.4:c.1774G>A MANE Select	NP_891549.1:p.Gly592Arg