Canonical Allele Identifier: CA403488755

Gene: TICAM1

Linked Data

• gnomAD v4: 19-4816558-A-T
• MyVariant Identifiers: chr19:g.4816570A>T (hg19) ; chr19:g.4816558A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816558A>T , CM000681.2:g.4816558A>T	GRCh38
NC_000019.9:g.4816570A>T , CM000681.1:g.4816570A>T	GRCh37
NC_000019.8:g.4767570A>T	NCBI36
NG_031998.1:g.20185T>A , LRG_358:g.20185T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1820T>A MANE Select	ENSP00000248244.4:p.Met607Lys
ENST00000248244.5:c.1820T>A	ENSP00000248244.4:p.Met607Lys
ENST00000621756.1:c.1403T>A	ENSP00000479467.1:p.Met468Lys
NM_182919.3:c.1820T>A , LRG_358t1:c.1820T>A	NP_891549.1:p.Met607Lys
NM_001385678.1:c.1778T>A	NP_001372607.1:p.Met593Lys
NM_001385679.1:c.1685T>A	NP_001372608.1:p.Met562Lys
NM_001385680.1:c.1178T>A	NP_001372609.1:p.Met393Lys
NM_182919.4:c.1820T>A MANE Select	NP_891549.1:p.Met607Lys