Canonical Allele Identifier: CA403488451

Gene: TICAM1

Linked Data

• MyVariant Identifiers: chr19:g.4816419G>T (hg19) ; chr19:g.4816407G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816407G>T , CM000681.2:g.4816407G>T	GRCh38
NC_000019.9:g.4816419G>T , CM000681.1:g.4816419G>T	GRCh37
NC_000019.8:g.4767419G>T	NCBI36
NG_031998.1:g.20336C>A , LRG_358:g.20336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1971C>A MANE Select	ENSP00000248244.4:p.Phe657Leu
ENST00000248244.5:c.1971C>A	ENSP00000248244.4:p.Phe657Leu
ENST00000621756.1:c.1480-7C>A	ENSP00000479467.1:n.1480-7C>A
NM_182919.3:c.1971C>A , LRG_358t1:c.1971C>A	NP_891549.1:p.Phe657Leu
NM_001385678.1:c.1929C>A	NP_001372607.1:p.Phe643Leu
NM_001385679.1:c.1836C>A	NP_001372608.1:p.Phe612Leu
NM_001385680.1:c.1329C>A	NP_001372609.1:p.Phe443Leu
NM_182919.4:c.1971C>A MANE Select	NP_891549.1:p.Phe657Leu