Canonical Allele Identifier: CA9105052
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2097337
ClinVar RCV Id: RCV003016640
dbSNP Id: rs761523820
ExAC: 19:4816531 G / C
gnomAD v2: 19-4816531-G-C
gnomAD v4: 19-4816519-G-C
MyVariant Identifiers: chr19:g.4816531G>C (hg19) chr19:g.4816519G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816519G>C , CM000681.2:g.4816519G>C GRCh38
NC_000019.9:g.4816531G>C , CM000681.1:g.4816531G>C GRCh37
NC_000019.8:g.4767531G>C NCBI36
NG_031998.1:g.20224C>G , LRG_358:g.20224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1859C>G MANE Select ENSP00000248244.4:p.Pro620Arg
ENST00000248244.5:c.1859C>G ENSP00000248244.4:p.Pro620Arg
ENST00000621756.1:c.1442C>G ENSP00000479467.1:p.Pro481Arg
NM_182919.3:c.1859C>G , LRG_358t1:c.1859C>G NP_891549.1:p.Pro620Arg
NM_001385678.1:c.1817C>G NP_001372607.1:p.Pro606Arg
NM_001385679.1:c.1724C>G NP_001372608.1:p.Pro575Arg
NM_001385680.1:c.1217C>G NP_001372609.1:p.Pro406Arg
NM_182919.4:c.1859C>G MANE Select NP_891549.1:p.Pro620Arg
Search 100 bp 5'
Search 100 bp 3'