Canonical Allele Identifier: CA1715018

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 866499
• ClinVar RCV Id: RCV001074549 ; RCV002480449
• dbSNP Id: rs767343226
• ExAC: 2:73799542 A / T
• gnomAD v2: 2-73799542-A-T
• gnomAD v4: 2-73572415-A-T
• MyVariant Identifiers: chr2:g.73799542A>T (hg19) ; chr2:g.73572415A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572415A>T , CM000664.2:g.73572415A>T	GRCh38
NC_000002.11:g.73799542A>T , CM000664.1:g.73799542A>T	GRCh37
NC_000002.10:g.73653050A>T	NCBI36
NG_011690.1:g.191663A>T , LRG_741:g.191663A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10157A>T	ENSP00000507671.1:p.Asp3386Val
ENST00000682801.1:c.10157A>T	ENSP00000507862.1:p.Asp3386Val
ENST00000682859.1:c.10157A>T	ENSP00000508222.1:p.Asp3386Val
ENST00000683791.1:c.3243A>T
ENST00000684460.1:c.7438A>T
ENST00000684548.1:c.10157A>T	ENSP00000507421.1:p.Asp3386Val
ENST00000684590.1:c.4604A>T	ENSP00000507376.1:p.Asp1535Val
ENST00000684656.1:c.7483A>T
ENST00000613296.6:c.10538A>T MANE Select	ENSP00000482968.1:p.Asp3513Val
ENST00000651057.1:c.692A>T	ENSP00000498504.1:p.Asp231Val
ENST00000651434.1:c.1894A>T
ENST00000652487.1:c.1635A>T
ENST00000423048.5:c.4029A>T	ENSP00000399833.1:n.4029A>T
ENST00000484298.5:c.10412A>T	ENSP00000478155.1:p.Asp3471Val
ENST00000613296.4:c.10538A>T	ENSP00000482968.1:p.Asp3513Val
ENST00000614410.4:c.10538A>T	ENSP00000479094.1:p.Asp3513Val
ENST00000620466.4:n.4341A>T
NM_015120.4:c.10541A>T , LRG_741t1:c.10541A>T	NP_055935.4:p.Asp3514Val
NM_001378454.1:c.10538A>T MANE Select	NP_001365383.1:p.Asp3513Val