Canonical Allele Identifier: CA304546833
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2754970
ClinVar RCV Id: RCV003531811
dbSNP Id: rs199519963
gnomAD v3: 19-4816260-G-A
gnomAD v4: 19-4816260-G-A
COSMIC: COSM4581255
MyVariant Identifiers: chr19:g.4816272G>A (hg19) chr19:g.4816260G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816260G>A , CM000681.2:g.4816260G>A GRCh38
NC_000019.9:g.4816272G>A , CM000681.1:g.4816272G>A GRCh37
NC_000019.8:g.4767272G>A NCBI36
NG_031998.1:g.20483C>T , LRG_358:g.20483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.2118C>T MANE Select ENSP00000248244.4:p.Asp706=
ENST00000248244.5:c.2118C>T ENSP00000248244.4:p.Asp706=
ENST00000621756.1:c.1620C>T ENSP00000479467.1:p.Asp540=
NM_182919.3:c.2118C>T , LRG_358t1:c.2118C>T NP_891549.1:p.Asp706=
NM_001385678.1:c.2076C>T NP_001372607.1:p.Asp692=
NM_001385679.1:c.1983C>T NP_001372608.1:p.Asp661=
NM_001385680.1:c.1476C>T NP_001372609.1:p.Asp492=
NM_182919.4:c.2118C>T MANE Select NP_891549.1:p.Asp706=
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