Canonical Allele Identifier: CA1714322

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2140880
• ClinVar RCV Id: RCV003060224
• dbSNP Id: rs759574394
• ExAC: 2:73716777 G / A
• gnomAD v2: 2-73716777-G-A
• gnomAD v4: 2-73489650-G-A
• MyVariant Identifiers: chr2:g.73716777G>A (hg19) ; chr2:g.73489650G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489650G>A , CM000664.2:g.73489650G>A	GRCh38
NC_000002.11:g.73716777G>A , CM000664.1:g.73716777G>A	GRCh37
NC_000002.10:g.73570285G>A	NCBI36
NG_011690.1:g.108898G>A , LRG_741:g.108898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7310G>A	ENSP00000507671.1:p.Arg2437Gln
ENST00000682801.1:c.7310G>A	ENSP00000507862.1:p.Arg2437Gln
ENST00000682859.1:c.7310G>A	ENSP00000508222.1:p.Arg2437Gln
ENST00000683791.1:c.702G>A
ENST00000684460.1:c.4762G>A
ENST00000684548.1:c.7310G>A	ENSP00000507421.1:p.Arg2437Gln
ENST00000684590.1:c.1757G>A	ENSP00000507376.1:p.Arg586Gln
ENST00000684656.1:c.4762G>A
ENST00000613296.6:c.7691G>A MANE Select	ENSP00000482968.1:p.Arg2564Gln
ENST00000651434.1:c.896-30125G>A
ENST00000423048.5:c.2522G>A	ENSP00000399833.1:p.Arg841Gln
ENST00000484298.5:c.7565G>A	ENSP00000478155.1:p.Arg2522Gln
ENST00000613296.4:c.7691G>A	ENSP00000482968.1:p.Arg2564Gln
ENST00000614410.4:c.7691G>A	ENSP00000479094.1:p.Arg2564Gln
ENST00000620466.4:n.1494G>A
NM_015120.4:c.7694G>A , LRG_741t1:c.7694G>A	NP_055935.4:p.Arg2565Gln
NM_001378454.1:c.7691G>A MANE Select	NP_001365383.1:p.Arg2564Gln