Canonical Allele Identifier: CA403488788

Gene: TICAM1

Linked Data

• ClinVar Variation Id: 1061096
• ClinVar RCV Id: RCV001370614
• dbSNP Id: rs760290741
• gnomAD v4: 19-4816576-G-C
• MyVariant Identifiers: chr19:g.4816588G>C (hg19) ; chr19:g.4816576G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816576G>C , CM000681.2:g.4816576G>C	GRCh38
NC_000019.9:g.4816588G>C , CM000681.1:g.4816588G>C	GRCh37
NC_000019.8:g.4767588G>C	NCBI36
NG_031998.1:g.20167C>G , LRG_358:g.20167C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1802C>G MANE Select	ENSP00000248244.4:p.Ala601Gly
ENST00000248244.5:c.1802C>G	ENSP00000248244.4:p.Ala601Gly
ENST00000621756.1:c.1385C>G	ENSP00000479467.1:p.Ala462Gly
NM_182919.3:c.1802C>G , LRG_358t1:c.1802C>G	NP_891549.1:p.Ala601Gly
NM_001385678.1:c.1760C>G	NP_001372607.1:p.Ala587Gly
NM_001385679.1:c.1667C>G	NP_001372608.1:p.Ala556Gly
NM_001385680.1:c.1160C>G	NP_001372609.1:p.Ala387Gly
NM_182919.4:c.1802C>G MANE Select	NP_891549.1:p.Ala601Gly