Canonical Allele Identifier: CA1713562

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2039183
• ClinVar RCV Id: RCV002899696
• dbSNP Id: rs758717223
• ExAC: 2:73677285 A / G
• gnomAD v2: 2-73677285-A-G
• gnomAD v4: 2-73450158-A-G
• MyVariant Identifiers: chr2:g.73677285A>G (hg19) ; chr2:g.73450158A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450158A>G , CM000664.2:g.73450158A>G	GRCh38
NC_000002.11:g.73677285A>G , CM000664.1:g.73677285A>G	GRCh37
NC_000002.10:g.73530793A>G	NCBI36
NG_011690.1:g.69406A>G , LRG_741:g.69406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3250A>G	ENSP00000507671.1:p.Ile1084Val
ENST00000682801.1:c.3250A>G	ENSP00000507862.1:p.Ile1084Val
ENST00000682859.1:c.3250A>G	ENSP00000508222.1:p.Ile1084Val
ENST00000683791.1:c.685+17867A>G
ENST00000684460.1:c.702A>G
ENST00000684548.1:c.3250A>G	ENSP00000507421.1:p.Ile1084Val
ENST00000684656.1:c.702A>G
ENST00000613296.6:c.3631A>G MANE Select	ENSP00000482968.1:p.Ile1211Val
ENST00000484298.5:c.3505A>G	ENSP00000478155.1:p.Ile1169Val
ENST00000613296.4:c.3631A>G	ENSP00000482968.1:p.Ile1211Val
ENST00000614410.4:c.3631A>G	ENSP00000479094.1:p.Ile1211Val
NM_015120.4:c.3634A>G , LRG_741t1:c.3634A>G	NP_055935.4:p.Ile1212Val
NM_001378454.1:c.3631A>G MANE Select	NP_001365383.1:p.Ile1211Val