Canonical Allele Identifier: CA9105079

Gene: TICAM1

Linked Data

• dbSNP Id: rs777799844
• ExAC: 19:4816667 G / C
• gnomAD v2: 19-4816667-G-C
• gnomAD v4: 19-4816655-G-C
• MyVariant Identifiers: chr19:g.4816667G>C (hg19) ; chr19:g.4816655G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816655G>C , CM000681.2:g.4816655G>C	GRCh38
NC_000019.9:g.4816667G>C , CM000681.1:g.4816667G>C	GRCh37
NC_000019.8:g.4767667G>C	NCBI36
NG_031998.1:g.20088C>G , LRG_358:g.20088C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1723C>G MANE Select	ENSP00000248244.4:p.Gln575Glu
ENST00000248244.5:c.1723C>G	ENSP00000248244.4:p.Gln575Glu
ENST00000621756.1:c.1306C>G	ENSP00000479467.1:p.Gln436Glu
NM_182919.3:c.1723C>G , LRG_358t1:c.1723C>G	NP_891549.1:p.Gln575Glu
NM_001385678.1:c.1681C>G	NP_001372607.1:p.Gln561Glu
NM_001385679.1:c.1588C>G	NP_001372608.1:p.Gln530Glu
NM_001385680.1:c.1081C>G	NP_001372609.1:p.Gln361Glu
NM_182919.4:c.1723C>G MANE Select	NP_891549.1:p.Gln575Glu