Canonical Allele Identifier: CA403489147

Gene: TICAM1

Linked Data

• MyVariant Identifiers: chr19:g.4816750C>A (hg19) ; chr19:g.4816738C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816738C>A , CM000681.2:g.4816738C>A	GRCh38
NC_000019.9:g.4816750C>A , CM000681.1:g.4816750C>A	GRCh37
NC_000019.8:g.4767750C>A	NCBI36
NG_031998.1:g.20005G>T , LRG_358:g.20005G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1640G>T MANE Select	ENSP00000248244.4:p.Arg547Leu
ENST00000248244.5:c.1640G>T	ENSP00000248244.4:p.Arg547Leu
ENST00000621756.1:c.1223G>T	ENSP00000479467.1:p.Arg408Leu
NM_182919.3:c.1640G>T , LRG_358t1:c.1640G>T	NP_891549.1:p.Arg547Leu
NM_001385678.1:c.1598G>T	NP_001372607.1:p.Arg533Leu
NM_001385679.1:c.1505G>T	NP_001372608.1:p.Arg502Leu
NM_001385680.1:c.998G>T	NP_001372609.1:p.Arg333Leu
NM_182919.4:c.1640G>T MANE Select	NP_891549.1:p.Arg547Leu