Canonical Allele Identifier: CA347286263

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1723371
• ClinVar RCV Id: RCV002308647
• dbSNP Id: rs867845702
• gnomAD v4: 2-73572805-C-G
• MyVariant Identifiers: chr2:g.73799932C>G (hg19) ; chr2:g.73572805C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572805C>G , CM000664.2:g.73572805C>G	GRCh38
NC_000002.11:g.73799932C>G , CM000664.1:g.73799932C>G	GRCh37
NC_000002.10:g.73653440C>G	NCBI36
NG_011690.1:g.192053C>G , LRG_741:g.192053C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10547C>G	ENSP00000507671.1:p.Ser3516Cys
ENST00000682801.1:c.10547C>G	ENSP00000507862.1:p.Ser3516Cys
ENST00000682859.1:c.10547C>G	ENSP00000508222.1:p.Ser3516Cys
ENST00000683791.1:c.3633C>G
ENST00000684460.1:c.7828C>G
ENST00000684548.1:c.10547C>G	ENSP00000507421.1:p.Ser3516Cys
ENST00000684590.1:c.4994C>G	ENSP00000507376.1:p.Ser1665Cys
ENST00000684656.1:c.7873C>G
ENST00000613296.6:c.10928C>G MANE Select	ENSP00000482968.1:p.Ser3643Cys
ENST00000651057.1:c.1082C>G	ENSP00000498504.1:p.Ser361Cys
ENST00000651434.1:c.2284C>G
ENST00000651750.1:c.316C>G
ENST00000652487.1:c.2025C>G
ENST00000423048.5:c.4419C>G	ENSP00000399833.1:n.4419C>G
ENST00000484298.5:c.10802C>G	ENSP00000478155.1:p.Ser3601Cys
ENST00000613296.4:c.10928C>G	ENSP00000482968.1:p.Ser3643Cys
ENST00000614410.4:c.10928C>G	ENSP00000479094.1:p.Ser3643Cys
ENST00000620466.4:n.4731C>G
NM_015120.4:c.10931C>G , LRG_741t1:c.10931C>G	NP_055935.4:p.Ser3644Cys
NM_001378454.1:c.10928C>G MANE Select	NP_001365383.1:p.Ser3643Cys