Canonical Allele Identifier: CA9105061
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1524600
ClinVar RCV Id: RCV002031840
dbSNP Id: rs545638589
ExAC: 19:4816563 A / C
gnomAD v2: 19-4816563-A-C
gnomAD v3: 19-4816551-A-C
gnomAD v4: 19-4816551-A-C
MyVariant Identifiers: chr19:g.4816563A>C (hg19) chr19:g.4816551A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816551A>C , CM000681.2:g.4816551A>C GRCh38
NC_000019.9:g.4816563A>C , CM000681.1:g.4816563A>C GRCh37
NC_000019.8:g.4767563A>C NCBI36
NG_031998.1:g.20192T>G , LRG_358:g.20192T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1827T>G MANE Select ENSP00000248244.4:p.Phe609Leu
ENST00000248244.5:c.1827T>G ENSP00000248244.4:p.Phe609Leu
ENST00000621756.1:c.1410T>G ENSP00000479467.1:p.Phe470Leu
NM_182919.3:c.1827T>G , LRG_358t1:c.1827T>G NP_891549.1:p.Phe609Leu
NM_001385678.1:c.1785T>G NP_001372607.1:p.Phe595Leu
NM_001385679.1:c.1692T>G NP_001372608.1:p.Phe564Leu
NM_001385680.1:c.1185T>G NP_001372609.1:p.Phe395Leu
NM_182919.4:c.1827T>G MANE Select NP_891549.1:p.Phe609Leu
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