Canonical Allele Identifier: CA1713836

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 241001
• ClinVar RCV Id: RCV000731324 ; RCV001080878 ; RCV001701794 ; RCV002338755
• dbSNP Id: rs201390755
• ExAC: 2:73678843 A / G
• gnomAD v2: 2-73678843-A-G
• gnomAD v3: 2-73451716-A-G
• gnomAD v4: 2-73451716-A-G
• MyVariant Identifiers: chr2:g.73678843A>G (hg19) ; chr2:g.73451716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451716A>G , CM000664.2:g.73451716A>G	GRCh38
NC_000002.11:g.73678843A>G , CM000664.1:g.73678843A>G	GRCh37
NC_000002.10:g.73532351A>G	NCBI36
NG_011690.1:g.70964A>G , LRG_741:g.70964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.4808A>G	ENSP00000507671.1:p.Glu1603Gly
ENST00000682801.1:c.4808A>G	ENSP00000507862.1:p.Glu1603Gly
ENST00000682859.1:c.4808A>G	ENSP00000508222.1:p.Glu1603Gly
ENST00000683791.1:c.685+19425A>G
ENST00000684197.1:n.158A>G
ENST00000684460.1:c.2260A>G
ENST00000684548.1:c.4808A>G	ENSP00000507421.1:p.Glu1603Gly
ENST00000684656.1:c.2260A>G
ENST00000613296.6:c.5189A>G MANE Select	ENSP00000482968.1:p.Glu1730Gly
ENST00000423048.5:c.20A>G	ENSP00000399833.1:p.Glu7Gly
ENST00000484298.5:c.5063A>G	ENSP00000478155.1:p.Glu1688Gly
ENST00000613296.4:c.5189A>G	ENSP00000482968.1:p.Glu1730Gly
ENST00000614410.4:c.5189A>G	ENSP00000479094.1:p.Glu1730Gly
NM_015120.4:c.5192A>G , LRG_741t1:c.5192A>G	NP_055935.4:p.Glu1731Gly
NM_001378454.1:c.5189A>G MANE Select	NP_001365383.1:p.Glu1730Gly