Canonical Allele Identifier: CA427023992

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2787863
• ClinVar RCV Id: RCV003609461
• dbSNP Id: rs1413021043
• gnomAD v2: 2-73799879-G-A
• gnomAD v4: 2-73572752-G-A
• MyVariant Identifiers: chr2:g.73799879G>A (hg19) ; chr2:g.73572752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572752G>A , CM000664.2:g.73572752G>A	GRCh38
NC_000002.11:g.73799879G>A , CM000664.1:g.73799879G>A	GRCh37
NC_000002.10:g.73653387G>A	NCBI36
NG_011690.1:g.192000G>A , LRG_741:g.192000G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10494G>A	ENSP00000507671.1:p.Leu3498=
ENST00000682801.1:c.10494G>A	ENSP00000507862.1:p.Leu3498=
ENST00000682859.1:c.10494G>A	ENSP00000508222.1:p.Leu3498=
ENST00000683791.1:c.3580G>A
ENST00000684460.1:c.7775G>A
ENST00000684548.1:c.10494G>A	ENSP00000507421.1:p.Leu3498=
ENST00000684590.1:c.4941G>A	ENSP00000507376.1:p.Leu1647=
ENST00000684656.1:c.7820G>A
ENST00000613296.6:c.10875G>A MANE Select	ENSP00000482968.1:p.Leu3625=
ENST00000651057.1:c.1029G>A	ENSP00000498504.1:p.Leu343=
ENST00000651434.1:c.2231G>A
ENST00000651750.1:c.263G>A
ENST00000652487.1:c.1972G>A
ENST00000423048.5:c.4366G>A	ENSP00000399833.1:n.4366G>A
ENST00000484298.5:c.10749G>A	ENSP00000478155.1:p.Leu3583=
ENST00000613296.4:c.10875G>A	ENSP00000482968.1:p.Leu3625=
ENST00000614410.4:c.10875G>A	ENSP00000479094.1:p.Leu3625=
ENST00000620466.4:n.4678G>A
NM_015120.4:c.10878G>A , LRG_741t1:c.10878G>A	NP_055935.4:p.Leu3626=
NM_001378454.1:c.10875G>A MANE Select	NP_001365383.1:p.Leu3625=