Canonical Allele Identifier: CA9105101

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 1450310
• ClinVar RCV Id: RCV001990080 ; RCV004043951
• dbSNP Id: rs142171170
• ExAC: 19:4816790 G / T
• gnomAD v2: 19-4816790-G-T
• gnomAD v3: 19-4816778-G-T
• gnomAD v4: 19-4816778-G-T
• MyVariant Identifiers: chr19:g.4816790G>T (hg19) ; chr19:g.4816778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816778G>T , CM000681.2:g.4816778G>T	GRCh38
NC_000019.9:g.4816790G>T , CM000681.1:g.4816790G>T	GRCh37
NC_000019.8:g.4767790G>T	NCBI36
NG_031998.1:g.19965C>A , LRG_358:g.19965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1600C>A MANE Select	ENSP00000248244.4:p.Gln534Lys
ENST00000248244.5:c.1600C>A	ENSP00000248244.4:p.Gln534Lys
ENST00000621756.1:c.1183C>A	ENSP00000479467.1:p.Gln395Lys
NM_182919.3:c.1600C>A , LRG_358t1:c.1600C>A	NP_891549.1:p.Gln534Lys
NM_001385678.1:c.1558C>A	NP_001372607.1:p.Gln520Lys
NM_001385679.1:c.1465C>A	NP_001372608.1:p.Gln489Lys
NM_001385680.1:c.958C>A	NP_001372609.1:p.Gln320Lys
NM_182919.4:c.1600C>A MANE Select	NP_891549.1:p.Gln534Lys