Canonical Allele Identifier: CA9105092

Gene: TICAM1

Linked Data

• dbSNP Id: rs146110283
• ExAC: 19:4816742 G / T
• gnomAD v2: 19-4816742-G-T
• gnomAD v4: 19-4816730-G-T
• MyVariant Identifiers: chr19:g.4816742G>T (hg19) ; chr19:g.4816730G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816730G>T , CM000681.2:g.4816730G>T	GRCh38
NC_000019.9:g.4816742G>T , CM000681.1:g.4816742G>T	GRCh37
NC_000019.8:g.4767742G>T	NCBI36
NG_031998.1:g.20013C>A , LRG_358:g.20013C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1648C>A MANE Select	ENSP00000248244.4:p.Arg550=
ENST00000248244.5:c.1648C>A	ENSP00000248244.4:p.Arg550=
ENST00000621756.1:c.1231C>A	ENSP00000479467.1:p.Arg411=
NM_182919.3:c.1648C>A , LRG_358t1:c.1648C>A	NP_891549.1:p.Arg550=
NM_001385678.1:c.1606C>A	NP_001372607.1:p.Arg536=
NM_001385679.1:c.1513C>A	NP_001372608.1:p.Arg505=
NM_001385680.1:c.1006C>A	NP_001372609.1:p.Arg336=
NM_182919.4:c.1648C>A MANE Select	NP_891549.1:p.Arg550=