Canonical Allele Identifier: CA403488789

Gene: TICAM1

Linked Data

• dbSNP Id: rs760290741
• gnomAD v2: 19-4816588-G-T
• gnomAD v4: 19-4816576-G-T
• MyVariant Identifiers: chr19:g.4816588G>T (hg19) ; chr19:g.4816576G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1802C>A MANE Select	ENSP00000248244.4:p.Ala601Glu
ENST00000248244.5:c.1802C>A	ENSP00000248244.4:p.Ala601Glu
ENST00000621756.1:c.1385C>A	ENSP00000479467.1:p.Ala462Glu
NM_182919.3:c.1802C>A , LRG_358t1:c.1802C>A	NP_891549.1:p.Ala601Glu
NM_001385678.1:c.1760C>A	NP_001372607.1:p.Ala587Glu
NM_001385679.1:c.1667C>A	NP_001372608.1:p.Ala556Glu
NM_001385680.1:c.1160C>A	NP_001372609.1:p.Ala387Glu
NM_182919.4:c.1802C>A MANE Select	NP_891549.1:p.Ala601Glu