Canonical Allele Identifier: CA427001043

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1092609
• ClinVar RCV Id: RCV001412474 ; RCV002432138
• dbSNP Id: rs1672945488
• gnomAD v3: 2-73490131-A-G
• gnomAD v4: 2-73490131-A-G
• MyVariant Identifiers: chr2:g.73717258A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490131A>G , CM000664.2:g.73490131A>G	GRCh38
NC_000002.11:g.73717258A>G , CM000664.1:g.73717258A>G	GRCh37
NC_000002.10:g.73570766A>G	NCBI36
NG_011690.1:g.109379A>G , LRG_741:g.109379A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7791A>G	ENSP00000507671.1:p.Lys2597=
ENST00000682801.1:c.7791A>G	ENSP00000507862.1:p.Lys2597=
ENST00000682859.1:c.7791A>G	ENSP00000508222.1:p.Lys2597=
ENST00000683791.1:c.1183A>G
ENST00000684460.1:c.5243A>G
ENST00000684548.1:c.7791A>G	ENSP00000507421.1:p.Lys2597=
ENST00000684590.1:c.2238A>G	ENSP00000507376.1:p.Lys746=
ENST00000684656.1:c.5243A>G
ENST00000613296.6:c.8172A>G MANE Select	ENSP00000482968.1:p.Lys2724=
ENST00000651434.1:c.896-29644A>G
ENST00000423048.5:c.3003A>G	ENSP00000399833.1:p.Lys1001=
ENST00000484298.5:c.8046A>G	ENSP00000478155.1:p.Lys2682=
ENST00000613296.4:c.8172A>G	ENSP00000482968.1:p.Lys2724=
ENST00000614410.4:c.8172A>G	ENSP00000479094.1:p.Lys2724=
ENST00000620466.4:n.1975A>G
NM_015120.4:c.8175A>G , LRG_741t1:c.8175A>G	NP_055935.4:p.Lys2725=
NM_001378454.1:c.8172A>G MANE Select	NP_001365383.1:p.Lys2724=