Canonical Allele Identifier: CA9105047
Gene: TICAM1 HGNC NCBI
ClinVar RCV:
RCV000802786
ClinVar Variation:
648127
dbSNP:
3177471
gnomAD v2:
19:4816508 G / A
gnomAD v3:
19:4816496 G / A
gnomAD v4:
chr19-4816496-G-A
Joint Max Group AF 0.00012495 (NFE)
Genomes Max Group AF 0.00011231 (NFE)
Exomes Max Group AF 0.00012139 (NFE)
MyVariant.info:
GRCh38 chr19:g.4816496G>A
GRCh37 chr19:g.4816508G>A
Revel Score:
ENST00000248244 (MANE Select) 0.131
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4816496G>A , CM000681.2:g.4816496G>A GRCh38
NC_000019.9:g.4816508G>A , CM000681.1:g.4816508G>A GRCh37
NC_000019.8:g.4767508G>A NCBI36
NG_031998.1:g.20247C>T , LRG_358:g.20247C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000248244.6:c.1882C>T MANE Select ENSP00000248244.4:p.Pro628Ser
ENST00000248244.5:c.1882C>T ENSP00000248244.4:p.Pro628Ser
ENST00000621756.1:c.1465C>T ENSP00000479467.1:p.Pro489Ser
NM_182919.3:c.1882C>T , LRG_358t1:c.1882C>T NP_891549.1:p.Pro628Ser
NM_001385678.1:c.1840C>T NP_001372607.1:p.Pro614Ser
NM_001385679.1:c.1747C>T NP_001372608.1:p.Pro583Ser
NM_001385680.1:c.1240C>T NP_001372609.1:p.Pro414Ser
NM_182919.4:c.1882C>T MANE Select NP_891549.1:p.Pro628Ser
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