Canonical Allele Identifier: CA9105064
Gene: TICAM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3177354
ClinVar RCV Id: RCV004467196
dbSNP Id: rs772059316
ExAC: 19:4816586 G / T
gnomAD v2: 19-4816586-G-T
gnomAD v4: 19-4816574-G-T
MyVariant Identifiers: chr19:g.4816586G>T (hg19) chr19:g.4816574G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816574G>T , CM000681.2:g.4816574G>T GRCh38
NC_000019.9:g.4816586G>T , CM000681.1:g.4816586G>T GRCh37
NC_000019.8:g.4767586G>T NCBI36
NG_031998.1:g.20169C>A , LRG_358:g.20169C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1804C>A MANE Select ENSP00000248244.4:p.Pro602Thr
ENST00000248244.5:c.1804C>A ENSP00000248244.4:p.Pro602Thr
ENST00000621756.1:c.1387C>A ENSP00000479467.1:p.Pro463Thr
NM_182919.3:c.1804C>A , LRG_358t1:c.1804C>A NP_891549.1:p.Pro602Thr
NM_001385678.1:c.1762C>A NP_001372607.1:p.Pro588Thr
NM_001385679.1:c.1669C>A NP_001372608.1:p.Pro557Thr
NM_001385680.1:c.1162C>A NP_001372609.1:p.Pro388Thr
NM_182919.4:c.1804C>A MANE Select NP_891549.1:p.Pro602Thr
Search 100 bp 5'
Search 100 bp 3'