Canonical Allele Identifier: CA403489165

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816747-T-C
• MyVariant Identifiers: chr19:g.4816759T>C (hg19) ; chr19:g.4816747T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816747T>C , CM000681.2:g.4816747T>C	GRCh38
NC_000019.9:g.4816759T>C , CM000681.1:g.4816759T>C	GRCh37
NC_000019.8:g.4767759T>C	NCBI36
NG_031998.1:g.19996A>G , LRG_358:g.19996A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1631A>G MANE Select	ENSP00000248244.4:p.Gln544Arg
ENST00000248244.5:c.1631A>G	ENSP00000248244.4:p.Gln544Arg
ENST00000621756.1:c.1214A>G	ENSP00000479467.1:p.Gln405Arg
NM_182919.3:c.1631A>G , LRG_358t1:c.1631A>G	NP_891549.1:p.Gln544Arg
NM_001385678.1:c.1589A>G	NP_001372607.1:p.Gln530Arg
NM_001385679.1:c.1496A>G	NP_001372608.1:p.Gln499Arg
NM_001385680.1:c.989A>G	NP_001372609.1:p.Gln330Arg
NM_182919.4:c.1631A>G MANE Select	NP_891549.1:p.Gln544Arg