Canonical Allele Identifier: CA505173702

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816338-A-G
• MyVariant Identifiers: chr19:g.4816350A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816338A>G , CM000681.2:g.4816338A>G	GRCh38
NC_000019.9:g.4816350A>G , CM000681.1:g.4816350A>G	GRCh37
NC_000019.8:g.4767350A>G	NCBI36
NG_031998.1:g.20405T>C , LRG_358:g.20405T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2040T>C MANE Select	ENSP00000248244.4:p.Ile680=
ENST00000248244.5:c.2040T>C	ENSP00000248244.4:p.Ile680=
ENST00000621756.1:c.1542T>C	ENSP00000479467.1:p.Ile514=
NM_182919.3:c.2040T>C , LRG_358t1:c.2040T>C	NP_891549.1:p.Ile680=
NM_001385678.1:c.1998T>C	NP_001372607.1:p.Ile666=
NM_001385679.1:c.1905T>C	NP_001372608.1:p.Ile635=
NM_001385680.1:c.1398T>C	NP_001372609.1:p.Ile466=
NM_182919.4:c.2040T>C MANE Select	NP_891549.1:p.Ile680=