Canonical Allele Identifier: CA403489097

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 1933109
• ClinVar RCV Id: RCV002635788
• dbSNP Id: rs2093586143
• gnomAD v3: 19-4816715-G-A
• gnomAD v4: 19-4816715-G-A
• MyVariant Identifiers: chr19:g.4816727G>A (hg19) ; chr19:g.4816715G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816715G>A , CM000681.2:g.4816715G>A	GRCh38
NC_000019.9:g.4816727G>A , CM000681.1:g.4816727G>A	GRCh37
NC_000019.8:g.4767727G>A	NCBI36
NG_031998.1:g.20028C>T , LRG_358:g.20028C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248244.6:c.1663C>T MANE Select	ENSP00000248244.4:p.His555Tyr
ENST00000248244.5:c.1663C>T	ENSP00000248244.4:p.His555Tyr
ENST00000621756.1:c.1246C>T	ENSP00000479467.1:p.His416Tyr
NM_182919.3:c.1663C>T , LRG_358t1:c.1663C>T	NP_891549.1:p.His555Tyr
NM_001385678.1:c.1621C>T	NP_001372607.1:p.His541Tyr
NM_001385679.1:c.1528C>T	NP_001372608.1:p.His510Tyr
NM_001385680.1:c.1021C>T	NP_001372609.1:p.His341Tyr
NM_182919.4:c.1663C>T MANE Select	NP_891549.1:p.His555Tyr