Canonical Allele Identifier: CA403489608

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 851168
• ClinVar RCV Id: RCV001055509
• dbSNP Id: rs763237315
• MyVariant Identifiers: chr19:g.4816949C>T (hg19) ; chr19:g.4816937C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816937C>T , CM000681.2:g.4816937C>T	GRCh38
NC_000019.9:g.4816949C>T , CM000681.1:g.4816949C>T	GRCh37
NC_000019.8:g.4767949C>T	NCBI36
NG_031998.1:g.19806G>A , LRG_358:g.19806G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1441G>A MANE Select	ENSP00000248244.4:p.Gly481Arg
ENST00000248244.5:c.1441G>A	ENSP00000248244.4:p.Gly481Arg
ENST00000621756.1:c.1024G>A	ENSP00000479467.1:p.Gly342Arg
NM_182919.3:c.1441G>A , LRG_358t1:c.1441G>A	NP_891549.1:p.Gly481Arg
NM_001385678.1:c.1399G>A	NP_001372607.1:p.Gly467Arg
NM_001385679.1:c.1306G>A	NP_001372608.1:p.Gly436Arg
NM_001385680.1:c.799G>A	NP_001372609.1:p.Gly267Arg
NM_182919.4:c.1441G>A MANE Select	NP_891549.1:p.Gly481Arg