Canonical Allele Identifier: CA403489821

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816988-G-C
• MyVariant Identifiers: chr19:g.4817000G>C (hg19) ; chr19:g.4816988G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816988G>C , CM000681.2:g.4816988G>C	GRCh38
NC_000019.9:g.4817000G>C , CM000681.1:g.4817000G>C	GRCh37
NC_000019.8:g.4768000G>C	NCBI36
NG_031998.1:g.19755C>G , LRG_358:g.19755C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1390C>G MANE Select	ENSP00000248244.4:p.Leu464Val
ENST00000248244.5:c.1390C>G	ENSP00000248244.4:p.Leu464Val
ENST00000621756.1:c.973C>G	ENSP00000479467.1:p.Leu325Val
NM_182919.3:c.1390C>G , LRG_358t1:c.1390C>G	NP_891549.1:p.Leu464Val
NM_001385678.1:c.1348C>G	NP_001372607.1:p.Leu450Val
NM_001385679.1:c.1255C>G	NP_001372608.1:p.Leu419Val
NM_001385680.1:c.748C>G	NP_001372609.1:p.Leu250Val
NM_182919.4:c.1390C>G MANE Select	NP_891549.1:p.Leu464Val