Canonical Allele Identifier: CA16611112
Gene: ALMS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73490879C>T
GRCh37 chr2:g.73718006C>T
Revel Score:
ENST00000409009 0.020
ENST00000264448 0.020
gnomAD v2:
2:73718006 C / T
gnomAD v3:
2:73490879 C / T
gnomAD v4:
chr2-73490879-C-T
Joint Max Group AF 0.00001724 (NFE)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00001663 (NFE)
ClinVar RCV:
RCV000461372
RCV000786095
ClinVar Variation:
403947
dbSNP:
1043429291
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73490879C>T , CM000664.2:g.73490879C>T GRCh38
NC_000002.11:g.73718006C>T , CM000664.1:g.73718006C>T GRCh37
NC_000002.10:g.73571514C>T NCBI36
NG_011690.1:g.110127C>T , LRG_741:g.110127C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.8539C>T ENSP00000507671.1:p.Pro2847Ser
ENST00000682801.1:c.8539C>T ENSP00000507862.1:p.Pro2847Ser
ENST00000682859.1:c.8539C>T ENSP00000508222.1:p.Pro2847Ser
ENST00000683791.1:c.1931C>T
ENST00000684460.1:c.5991C>T
ENST00000684548.1:c.8539C>T ENSP00000507421.1:p.Pro2847Ser
ENST00000684590.1:c.2986C>T ENSP00000507376.1:p.Pro996Ser
ENST00000684656.1:c.5991C>T
ENST00000613296.6:c.8920C>T MANE Select ENSP00000482968.1:p.Pro2974Ser
ENST00000651434.1:c.896-28896C>T
ENST00000652487.1:c.17C>T
ENST00000423048.5:c.3030+721C>T ENSP00000399833.1:n.3030+721C>T
ENST00000484298.5:c.8794C>T ENSP00000478155.1:p.Pro2932Ser
ENST00000613296.4:c.8920C>T ENSP00000482968.1:p.Pro2974Ser
ENST00000614410.4:c.8920C>T ENSP00000479094.1:p.Pro2974Ser
ENST00000620466.4:n.2723C>T
NM_015120.4:c.8923C>T , LRG_741t1:c.8923C>T NP_055935.4:p.Pro2975Ser
NM_001378454.1:c.8920C>T MANE Select NP_001365383.1:p.Pro2974Ser
Search 100 bp 5'
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