Canonical Allele Identifier: CA1715097

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1528830
• ClinVar RCV Id: RCV002086873
• dbSNP Id: rs779961618
• ExAC: 2:73799990 A / G
• gnomAD v2: 2-73799990-A-G
• MyVariant Identifiers: chr2:g.73799990A>G (hg19) ; chr2:g.73572863A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572863A>G , CM000664.2:g.73572863A>G	GRCh38
NC_000002.11:g.73799990A>G , CM000664.1:g.73799990A>G	GRCh37
NC_000002.10:g.73653498A>G	NCBI36
NG_011690.1:g.192111A>G , LRG_741:g.192111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10605A>G	ENSP00000507671.1:p.Glu3535=
ENST00000682801.1:c.10605A>G	ENSP00000507862.1:p.Glu3535=
ENST00000682859.1:c.10605A>G	ENSP00000508222.1:p.Glu3535=
ENST00000683791.1:c.3691A>G
ENST00000684460.1:c.7886A>G
ENST00000684548.1:c.10605A>G	ENSP00000507421.1:p.Glu3535=
ENST00000684590.1:c.5052A>G	ENSP00000507376.1:p.Glu1684=
ENST00000684656.1:c.7931A>G
ENST00000613296.6:c.10986A>G MANE Select	ENSP00000482968.1:p.Glu3662=
ENST00000651057.1:c.1140A>G	ENSP00000498504.1:p.Glu380=
ENST00000651434.1:c.2342A>G
ENST00000651750.1:c.374A>G
ENST00000652487.1:c.2083A>G
ENST00000423048.5:c.4477A>G	ENSP00000399833.1:n.4477A>G
ENST00000484298.5:c.10860A>G	ENSP00000478155.1:p.Glu3620=
ENST00000613296.4:c.10986A>G	ENSP00000482968.1:p.Glu3662=
ENST00000614410.4:c.10986A>G	ENSP00000479094.1:p.Glu3662=
ENST00000620466.4:n.4789A>G
NM_015120.4:c.10989A>G , LRG_741t1:c.10989A>G	NP_055935.4:p.Glu3663=
NM_001378454.1:c.10986A>G MANE Select	NP_001365383.1:p.Glu3662=