Canonical Allele Identifier: CA1715419

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 656629
• ClinVar RCV Id: RCV001556167 ; RCV000813092 ; RCV002345849
• dbSNP Id: rs372910832
• ExAC: 2:73828535 T / C
• gnomAD v2: 2-73828535-T-C
• gnomAD v3: 2-73601408-T-C
• gnomAD v4: 2-73601408-T-C
• MyVariant Identifiers: chr2:g.73828535T>C (hg19) ; chr2:g.73601408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601408T>C , CM000664.2:g.73601408T>C	GRCh38
NC_000002.11:g.73828535T>C , CM000664.1:g.73828535T>C	GRCh37
NC_000002.10:g.73682043T>C	NCBI36
NG_011690.1:g.220656T>C , LRG_741:g.220656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11705T>C	ENSP00000507671.1:p.Leu3902Pro
ENST00000682801.1:c.11167-777T>C	ENSP00000507862.1:n.11167-777T>C
ENST00000682859.1:c.11705T>C	ENSP00000508222.1:p.Leu3902Pro
ENST00000683791.1:c.4791T>C
ENST00000684460.1:c.8986T>C
ENST00000684548.1:c.11705T>C	ENSP00000507421.1:p.Leu3902Pro
ENST00000684590.1:c.6152T>C	ENSP00000507376.1:p.Leu2051Pro
ENST00000684656.1:c.9170T>C
ENST00000613296.6:c.12086T>C MANE Select	ENSP00000482968.1:p.Leu4029Pro
ENST00000651057.1:c.2240T>C	ENSP00000498504.1:p.Leu747Pro
ENST00000651434.1:c.3442T>C
ENST00000651750.1:c.1260+527T>C
ENST00000652487.1:c.3257T>C
ENST00000464408.3:n.261T>C
ENST00000484298.5:c.11960T>C	ENSP00000478155.1:p.Leu3987Pro
ENST00000613296.4:c.12086T>C	ENSP00000482968.1:p.Leu4029Pro
ENST00000620466.4:n.5889T>C
NM_015120.4:c.12089T>C , LRG_741t1:c.12089T>C	NP_055935.4:p.Leu4030Pro
NM_001378454.1:c.12086T>C MANE Select	NP_001365383.1:p.Leu4029Pro