Canonical Allele Identifier: CA403490175

Gene: TICAM1

Linked Data

• dbSNP Id: rs1304258918
• gnomAD v2: 19-4817077-T-C
• gnomAD v3: 19-4817065-T-C
• gnomAD v4: 19-4817065-T-C
• MyVariant Identifiers: chr19:g.4817077T>C (hg19) ; chr19:g.4817065T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4817065T>C , CM000681.2:g.4817065T>C	GRCh38
NC_000019.9:g.4817077T>C , CM000681.1:g.4817077T>C	GRCh37
NC_000019.8:g.4768077T>C	NCBI36
NG_031998.1:g.19678A>G , LRG_358:g.19678A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1313A>G MANE Select	ENSP00000248244.4:p.Glu438Gly
ENST00000248244.5:c.1313A>G	ENSP00000248244.4:p.Glu438Gly
ENST00000621756.1:c.896A>G	ENSP00000479467.1:p.Glu299Gly
NM_182919.3:c.1313A>G , LRG_358t1:c.1313A>G	NP_891549.1:p.Glu438Gly
NM_001385678.1:c.1271A>G	NP_001372607.1:p.Glu424Gly
NM_001385679.1:c.1178A>G	NP_001372608.1:p.Glu393Gly
NM_001385680.1:c.671A>G	NP_001372609.1:p.Glu224Gly
NM_182919.4:c.1313A>G MANE Select	NP_891549.1:p.Glu438Gly