Canonical Allele Identifier: CA403490065

Gene: TICAM1

Linked Data

• MyVariant Identifiers: chr19:g.4817054T>A (hg19) ; chr19:g.4817042T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1336A>T MANE Select	ENSP00000248244.4:p.Ile446Leu
ENST00000248244.5:c.1336A>T	ENSP00000248244.4:p.Ile446Leu
ENST00000621756.1:c.919A>T	ENSP00000479467.1:p.Ile307Leu
NM_182919.3:c.1336A>T , LRG_358t1:c.1336A>T	NP_891549.1:p.Ile446Leu
NM_001385678.1:c.1294A>T	NP_001372607.1:p.Ile432Leu
NM_001385679.1:c.1201A>T	NP_001372608.1:p.Ile401Leu
NM_001385680.1:c.694A>T	NP_001372609.1:p.Ile232Leu
NM_182919.4:c.1336A>T MANE Select	NP_891549.1:p.Ile446Leu