Canonical Allele Identifier: CA347265954
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2154172
ClinVar RCV Id: RCV003069145
dbSNP Id: rs1191032728
gnomAD v4: 2-73489806-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73489806G>A , CM000664.2:g.73489806G>A GRCh38
NC_000002.11:g.73716933G>A , CM000664.1:g.73716933G>A GRCh37
NC_000002.10:g.73570441G>A NCBI36
NG_011690.1:g.109054G>A , LRG_741:g.109054G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.7466G>A ENSP00000507671.1:p.Arg2489Gln
ENST00000682801.1:c.7466G>A ENSP00000507862.1:p.Arg2489Gln
ENST00000682859.1:c.7466G>A ENSP00000508222.1:p.Arg2489Gln
ENST00000683791.1:c.858G>A
ENST00000684460.1:c.4918G>A
ENST00000684548.1:c.7466G>A ENSP00000507421.1:p.Arg2489Gln
ENST00000684590.1:c.1913G>A ENSP00000507376.1:p.Arg638Gln
ENST00000684656.1:c.4918G>A
ENST00000613296.6:c.7847G>A MANE Select ENSP00000482968.1:p.Arg2616Gln
ENST00000651434.1:c.896-29969G>A
ENST00000423048.5:c.2678G>A ENSP00000399833.1:p.Arg893Gln
ENST00000484298.5:c.7721G>A ENSP00000478155.1:p.Arg2574Gln
ENST00000613296.4:c.7847G>A ENSP00000482968.1:p.Arg2616Gln
ENST00000614410.4:c.7847G>A ENSP00000479094.1:p.Arg2616Gln
ENST00000620466.4:n.1650G>A
NM_015120.4:c.7850G>A , LRG_741t1:c.7850G>A NP_055935.4:p.Arg2617Gln
NM_001378454.1:c.7847G>A MANE Select NP_001365383.1:p.Arg2616Gln