Canonical Allele Identifier: CA1715014

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1378061
• ClinVar RCV Id: RCV001880956
• dbSNP Id: rs759463622
• ExAC: 2:73799497 A / G
• gnomAD v2: 2-73799497-A-G
• gnomAD v3: 2-73572370-A-G
• gnomAD v4: 2-73572370-A-G
• MyVariant Identifiers: chr2:g.73799497A>G (hg19) ; chr2:g.73572370A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572370A>G , CM000664.2:g.73572370A>G	GRCh38
NC_000002.11:g.73799497A>G , CM000664.1:g.73799497A>G	GRCh37
NC_000002.10:g.73653005A>G	NCBI36
NG_011690.1:g.191618A>G , LRG_741:g.191618A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10112A>G	ENSP00000507671.1:p.His3371Arg
ENST00000682801.1:c.10112A>G	ENSP00000507862.1:p.His3371Arg
ENST00000682859.1:c.10112A>G	ENSP00000508222.1:p.His3371Arg
ENST00000683791.1:c.3198A>G
ENST00000684460.1:c.7393A>G
ENST00000684548.1:c.10112A>G	ENSP00000507421.1:p.His3371Arg
ENST00000684590.1:c.4559A>G	ENSP00000507376.1:p.His1520Arg
ENST00000684656.1:c.7438A>G
ENST00000613296.6:c.10493A>G MANE Select	ENSP00000482968.1:p.His3498Arg
ENST00000651057.1:c.647A>G	ENSP00000498504.1:p.His216Arg
ENST00000651434.1:c.1849A>G
ENST00000652487.1:c.1590A>G
ENST00000423048.5:c.3984A>G	ENSP00000399833.1:n.3984A>G
ENST00000484298.5:c.10367A>G	ENSP00000478155.1:p.His3456Arg
ENST00000613296.4:c.10493A>G	ENSP00000482968.1:p.His3498Arg
ENST00000614410.4:c.10493A>G	ENSP00000479094.1:p.His3498Arg
ENST00000620466.4:n.4296A>G
NM_015120.4:c.10496A>G , LRG_741t1:c.10496A>G	NP_055935.4:p.His3499Arg
NM_001378454.1:c.10493A>G MANE Select	NP_001365383.1:p.His3498Arg