Canonical Allele Identifier: CA403488194

Gene: TICAM1

Linked Data

• MyVariant Identifiers: chr19:g.4816324A>C (hg19) ; chr19:g.4816312A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816312A>C , CM000681.2:g.4816312A>C	GRCh38
NC_000019.9:g.4816324A>C , CM000681.1:g.4816324A>C	GRCh37
NC_000019.8:g.4767324A>C	NCBI36
NG_031998.1:g.20431T>G , LRG_358:g.20431T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.2066T>G MANE Select	ENSP00000248244.4:p.Leu689Arg
ENST00000248244.5:c.2066T>G	ENSP00000248244.4:p.Leu689Arg
ENST00000621756.1:c.1568T>G	ENSP00000479467.1:p.Leu523Arg
NM_182919.3:c.2066T>G , LRG_358t1:c.2066T>G	NP_891549.1:p.Leu689Arg
NM_001385678.1:c.2024T>G	NP_001372607.1:p.Leu675Arg
NM_001385679.1:c.1931T>G	NP_001372608.1:p.Leu644Arg
NM_001385680.1:c.1424T>G	NP_001372609.1:p.Leu475Arg
NM_182919.4:c.2066T>G MANE Select	NP_891549.1:p.Leu689Arg