Canonical Allele Identifier: CA50397314
Gene: ALMS1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.73452547A>G
GRCh37 chr2:g.73679674A>G
Revel Score:
ENST00000409009 0.021
ENST00000264448 0.021
ENST00000377715 0.021
gnomAD v2:
2:73679674 A / G
gnomAD v3:
2:73452547 A / G
gnomAD v4:
chr2-73452547-A-G
Joint Max Group AF 0.00009057 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00009468 (NFE)
ClinVar RCV:
RCV000558186
RCV002358477
ClinVar Variation:
459876
dbSNP:
1047348249
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73452547A>G , CM000664.2:g.73452547A>G GRCh38
NC_000002.11:g.73679674A>G , CM000664.1:g.73679674A>G GRCh37
NC_000002.10:g.73533182A>G NCBI36
NG_011690.1:g.71795A>G , LRG_741:g.71795A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.5639A>G ENSP00000507671.1:p.Gln1880Arg
ENST00000682801.1:c.5639A>G ENSP00000507862.1:p.Gln1880Arg
ENST00000682859.1:c.5639A>G ENSP00000508222.1:p.Gln1880Arg
ENST00000683791.1:c.685+20256A>G
ENST00000684197.1:n.989A>G
ENST00000684460.1:c.3091A>G
ENST00000684548.1:c.5639A>G ENSP00000507421.1:p.Gln1880Arg
ENST00000684590.1:c.137A>G ENSP00000507376.1:p.Gln46Arg
ENST00000684656.1:c.3091A>G
ENST00000613296.6:c.6020A>G MANE Select ENSP00000482968.1:p.Gln2007Arg
ENST00000423048.5:c.851A>G ENSP00000399833.1:p.Gln284Arg
ENST00000484298.5:c.5894A>G ENSP00000478155.1:p.Gln1965Arg
ENST00000613296.4:c.6020A>G ENSP00000482968.1:p.Gln2007Arg
ENST00000614410.4:c.6020A>G ENSP00000479094.1:p.Gln2007Arg
NM_015120.4:c.6023A>G , LRG_741t1:c.6023A>G NP_055935.4:p.Gln2008Arg
NM_001378454.1:c.6020A>G MANE Select NP_001365383.1:p.Gln2007Arg
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