Canonical Allele Identifier: CA403489934

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4817012-G-A
• MyVariant Identifiers: chr19:g.4817024G>A (hg19) ; chr19:g.4817012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4817012G>A , CM000681.2:g.4817012G>A	GRCh38
NC_000019.9:g.4817024G>A , CM000681.1:g.4817024G>A	GRCh37
NC_000019.8:g.4768024G>A	NCBI36
NG_031998.1:g.19731C>T , LRG_358:g.19731C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1366C>T MANE Select	ENSP00000248244.4:p.Leu456Phe
ENST00000248244.5:c.1366C>T	ENSP00000248244.4:p.Leu456Phe
ENST00000621756.1:c.949C>T	ENSP00000479467.1:p.Leu317Phe
NM_182919.3:c.1366C>T , LRG_358t1:c.1366C>T	NP_891549.1:p.Leu456Phe
NM_001385678.1:c.1324C>T	NP_001372607.1:p.Leu442Phe
NM_001385679.1:c.1231C>T	NP_001372608.1:p.Leu411Phe
NM_001385680.1:c.724C>T	NP_001372609.1:p.Leu242Phe
NM_182919.4:c.1366C>T MANE Select	NP_891549.1:p.Leu456Phe