Canonical Allele Identifier: CA1715311

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 511407
• ClinVar RCV Id: RCV000603620 ; RCV000861633 ; RCV001697874 ; RCV002331052
• dbSNP Id: rs373364340
• ExAC: 2:73827884 G / A
• gnomAD v2: 2-73827884-G-A
• gnomAD v3: 2-73600757-G-A
• gnomAD v4: 2-73600757-G-A
• MyVariant Identifiers: chr2:g.73827884G>A (hg19) ; chr2:g.73600757G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73600757G>A , CM000664.2:g.73600757G>A	GRCh38
NC_000002.11:g.73827884G>A , CM000664.1:g.73827884G>A	GRCh37
NC_000002.10:g.73681392G>A	NCBI36
NG_011690.1:g.220005G>A , LRG_741:g.220005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11367G>A	ENSP00000507671.1:p.Glu3789=
ENST00000682801.1:c.11167-1428G>A	ENSP00000507862.1:n.11167-1428G>A
ENST00000682859.1:c.11367G>A	ENSP00000508222.1:p.Glu3789=
ENST00000683791.1:c.4453G>A
ENST00000684460.1:c.8648G>A
ENST00000684548.1:c.11367G>A	ENSP00000507421.1:p.Glu3789=
ENST00000684590.1:c.5814G>A	ENSP00000507376.1:p.Glu1938=
ENST00000684656.1:c.8832G>A
ENST00000613296.6:c.11748G>A MANE Select	ENSP00000482968.1:p.Glu3916=
ENST00000651057.1:c.1902G>A	ENSP00000498504.1:p.Glu634=
ENST00000651434.1:c.3104G>A
ENST00000651750.1:c.1136G>A
ENST00000652487.1:c.2919G>A
ENST00000484298.5:c.11622G>A	ENSP00000478155.1:p.Glu3874=
ENST00000613296.4:c.11748G>A	ENSP00000482968.1:p.Glu3916=
ENST00000620466.4:n.5551G>A
NM_015120.4:c.11751G>A , LRG_741t1:c.11751G>A	NP_055935.4:p.Glu3917=
NM_001378454.1:c.11748G>A MANE Select	NP_001365383.1:p.Glu3916=