Canonical Allele Identifier: CA9105129
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 953977
ClinVar RCV Id: RCV001226353 RCV004032569
dbSNP Id: rs199751361
ExAC: 19:4816936 C / T
gnomAD v2: 19-4816936-C-T
gnomAD v3: 19-4816924-C-T
gnomAD v4: 19-4816924-C-T
MyVariant Identifiers: chr19:g.4816936C>T (hg19) chr19:g.4816924C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816924C>T , CM000681.2:g.4816924C>T GRCh38
NC_000019.9:g.4816936C>T , CM000681.1:g.4816936C>T GRCh37
NC_000019.8:g.4767936C>T NCBI36
NG_031998.1:g.19819G>A , LRG_358:g.19819G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1454G>A MANE Select ENSP00000248244.4:p.Cys485Tyr
ENST00000248244.5:c.1454G>A ENSP00000248244.4:p.Cys485Tyr
ENST00000621756.1:c.1037G>A ENSP00000479467.1:p.Cys346Tyr
NM_182919.3:c.1454G>A , LRG_358t1:c.1454G>A NP_891549.1:p.Cys485Tyr
NM_001385678.1:c.1412G>A NP_001372607.1:p.Cys471Tyr
NM_001385679.1:c.1319G>A NP_001372608.1:p.Cys440Tyr
NM_001385680.1:c.812G>A NP_001372609.1:p.Cys271Tyr
NM_182919.4:c.1454G>A MANE Select NP_891549.1:p.Cys485Tyr
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