Canonical Allele Identifier: CA403487885

Gene: TICAM1

Linked Data

• dbSNP Id: rs1476609338
• gnomAD v3: 19-4816250-C-T
• gnomAD v4: 19-4816250-C-T
• MyVariant Identifiers: chr19:g.4816262C>T (hg19) ; chr19:g.4816250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816250C>T , CM000681.2:g.4816250C>T	GRCh38
NC_000019.9:g.4816262C>T , CM000681.1:g.4816262C>T	GRCh37
NC_000019.8:g.4767262C>T	NCBI36
NG_031998.1:g.20493G>A , LRG_358:g.20493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2128G>A MANE Select	ENSP00000248244.4:p.Glu710Lys
ENST00000248244.5:c.2128G>A	ENSP00000248244.4:p.Glu710Lys
ENST00000621756.1:c.1630G>A	ENSP00000479467.1:p.Glu544Lys
NM_182919.3:c.2128G>A , LRG_358t1:c.2128G>A	NP_891549.1:p.Glu710Lys
NM_001385678.1:c.2086G>A	NP_001372607.1:p.Glu696Lys
NM_001385679.1:c.1993G>A	NP_001372608.1:p.Glu665Lys
NM_001385680.1:c.1486G>A	NP_001372609.1:p.Glu496Lys
NM_182919.4:c.2128G>A MANE Select	NP_891549.1:p.Glu710Lys