Canonical Allele Identifier: CA1715063
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1300849
dbSNP Id: rs148044176
gnomAD v2: 2-73799821-G-A
gnomAD v3: 2-73572694-G-A
gnomAD v4: 2-73572694-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572694G>A , CM000664.2:g.73572694G>A GRCh38
NC_000002.11:g.73799821G>A , CM000664.1:g.73799821G>A GRCh37
NC_000002.10:g.73653329G>A NCBI36
NG_011690.1:g.191942G>A , LRG_741:g.191942G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.10436G>A ENSP00000507671.1:p.Arg3479Gln
ENST00000682801.1:c.10436G>A ENSP00000507862.1:p.Arg3479Gln
ENST00000682859.1:c.10436G>A ENSP00000508222.1:p.Arg3479Gln
ENST00000683791.1:c.3522G>A
ENST00000684460.1:c.7717G>A
ENST00000684548.1:c.10436G>A ENSP00000507421.1:p.Arg3479Gln
ENST00000684590.1:c.4883G>A ENSP00000507376.1:p.Arg1628Gln
ENST00000684656.1:c.7762G>A
ENST00000613296.6:c.10817G>A MANE Select ENSP00000482968.1:p.Arg3606Gln
ENST00000651057.1:c.971G>A ENSP00000498504.1:p.Arg324Gln
ENST00000651434.1:c.2173G>A
ENST00000651750.1:c.205G>A
ENST00000652487.1:c.1914G>A
ENST00000423048.5:c.4308G>A ENSP00000399833.1:n.4308G>A
ENST00000484298.5:c.10691G>A ENSP00000478155.1:p.Arg3564Gln
ENST00000613296.4:c.10817G>A ENSP00000482968.1:p.Arg3606Gln
ENST00000614410.4:c.10817G>A ENSP00000479094.1:p.Arg3606Gln
ENST00000620466.4:n.4620G>A
NM_015120.4:c.10820G>A , LRG_741t1:c.10820G>A NP_055935.4:p.Arg3607Gln
NM_001378454.1:c.10817G>A MANE Select NP_001365383.1:p.Arg3606Gln