Canonical Allele Identifier: CA403490067

Gene: TICAM1

Linked Data

• dbSNP Id: rs2093587099
• gnomAD v4: 19-4817042-T-C
• MyVariant Identifiers: chr19:g.4817054T>C (hg19) ; chr19:g.4817042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4817042T>C , CM000681.2:g.4817042T>C	GRCh38
NC_000019.9:g.4817054T>C , CM000681.1:g.4817054T>C	GRCh37
NC_000019.8:g.4768054T>C	NCBI36
NG_031998.1:g.19701A>G , LRG_358:g.19701A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1336A>G MANE Select	ENSP00000248244.4:p.Ile446Val
ENST00000248244.5:c.1336A>G	ENSP00000248244.4:p.Ile446Val
ENST00000621756.1:c.919A>G	ENSP00000479467.1:p.Ile307Val
NM_182919.3:c.1336A>G , LRG_358t1:c.1336A>G	NP_891549.1:p.Ile446Val
NM_001385678.1:c.1294A>G	NP_001372607.1:p.Ile432Val
NM_001385679.1:c.1201A>G	NP_001372608.1:p.Ile401Val
NM_001385680.1:c.694A>G	NP_001372609.1:p.Ile232Val
NM_182919.4:c.1336A>G MANE Select	NP_891549.1:p.Ile446Val