Canonical Allele Identifier: CA1715390

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 581362
• ClinVar RCV Id: RCV000705168 ; RCV001195324 ; RCV001560085 ; RCV002334381
• dbSNP Id: rs201728850
• ExAC: 2:73828402 A / G
• gnomAD v2: 2-73828402-A-G
• gnomAD v3: 2-73601275-A-G
• gnomAD v4: 2-73601275-A-G
• MyVariant Identifiers: chr2:g.73828402A>G (hg19) ; chr2:g.73601275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601275A>G , CM000664.2:g.73601275A>G	GRCh38
NC_000002.11:g.73828402A>G , CM000664.1:g.73828402A>G	GRCh37
NC_000002.10:g.73681910A>G	NCBI36
NG_011690.1:g.220523A>G , LRG_741:g.220523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11572A>G	ENSP00000507671.1:p.Ile3858Val
ENST00000682801.1:c.11167-910A>G	ENSP00000507862.1:n.11167-910A>G
ENST00000682859.1:c.11572A>G	ENSP00000508222.1:p.Ile3858Val
ENST00000683791.1:c.4658A>G
ENST00000684460.1:c.8853A>G
ENST00000684548.1:c.11572A>G	ENSP00000507421.1:p.Ile3858Val
ENST00000684590.1:c.6019A>G	ENSP00000507376.1:p.Ile2007Val
ENST00000684656.1:c.9037A>G
ENST00000613296.6:c.11953A>G MANE Select	ENSP00000482968.1:p.Ile3985Val
ENST00000651057.1:c.2107A>G	ENSP00000498504.1:p.Ile703Val
ENST00000651434.1:c.3309A>G
ENST00000651750.1:c.1260+394A>G
ENST00000652487.1:c.3124A>G
ENST00000464408.3:n.128A>G
ENST00000484298.5:c.11827A>G	ENSP00000478155.1:p.Ile3943Val
ENST00000613296.4:c.11953A>G	ENSP00000482968.1:p.Ile3985Val
ENST00000620466.4:n.5756A>G
NM_015120.4:c.11956A>G , LRG_741t1:c.11956A>G	NP_055935.4:p.Ile3986Val
NM_001378454.1:c.11953A>G MANE Select	NP_001365383.1:p.Ile3985Val