Canonical Allele Identifier: CA403488774

Gene: TICAM1

Linked Data

• dbSNP Id: rs1272431262
• gnomAD v2: 19-4816580-C-G
• gnomAD v3: 19-4816568-C-G
• gnomAD v4: 19-4816568-C-G
• MyVariant Identifiers: chr19:g.4816580C>G (hg19) ; chr19:g.4816568C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4816568C>G , CM000681.2:g.4816568C>G	GRCh38
NC_000019.9:g.4816580C>G , CM000681.1:g.4816580C>G	GRCh37
NC_000019.8:g.4767580C>G	NCBI36
NG_031998.1:g.20175G>C , LRG_358:g.20175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248244.6:c.1810G>C MANE Select	ENSP00000248244.4:p.Gly604Arg
ENST00000248244.5:c.1810G>C	ENSP00000248244.4:p.Gly604Arg
ENST00000621756.1:c.1393G>C	ENSP00000479467.1:p.Gly465Arg
NM_182919.3:c.1810G>C , LRG_358t1:c.1810G>C	NP_891549.1:p.Gly604Arg
NM_001385678.1:c.1768G>C	NP_001372607.1:p.Gly590Arg
NM_001385679.1:c.1675G>C	NP_001372608.1:p.Gly559Arg
NM_001385680.1:c.1168G>C	NP_001372609.1:p.Gly390Arg
NM_182919.4:c.1810G>C MANE Select	NP_891549.1:p.Gly604Arg