Canonical Allele Identifier: CA347268539

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1999184
• ClinVar RCV Id: RCV002815223
• dbSNP Id: rs1371831589
• gnomAD v2: 2-73717461-G-A
• gnomAD v4: 2-73490334-G-A
• MyVariant Identifiers: chr2:g.73717461G>A (hg19) ; chr2:g.73490334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490334G>A , CM000664.2:g.73490334G>A	GRCh38
NC_000002.11:g.73717461G>A , CM000664.1:g.73717461G>A	GRCh37
NC_000002.10:g.73570969G>A	NCBI36
NG_011690.1:g.109582G>A , LRG_741:g.109582G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7994G>A	ENSP00000507671.1:p.Arg2665Lys
ENST00000682801.1:c.7994G>A	ENSP00000507862.1:p.Arg2665Lys
ENST00000682859.1:c.7994G>A	ENSP00000508222.1:p.Arg2665Lys
ENST00000683791.1:c.1386G>A
ENST00000684460.1:c.5446G>A
ENST00000684548.1:c.7994G>A	ENSP00000507421.1:p.Arg2665Lys
ENST00000684590.1:c.2441G>A	ENSP00000507376.1:p.Arg814Lys
ENST00000684656.1:c.5446G>A
ENST00000613296.6:c.8375G>A MANE Select	ENSP00000482968.1:p.Arg2792Lys
ENST00000651434.1:c.896-29441G>A
ENST00000423048.5:c.3030+176G>A	ENSP00000399833.1:n.3030+176G>A
ENST00000484298.5:c.8249G>A	ENSP00000478155.1:p.Arg2750Lys
ENST00000613296.4:c.8375G>A	ENSP00000482968.1:p.Arg2792Lys
ENST00000614410.4:c.8375G>A	ENSP00000479094.1:p.Arg2792Lys
ENST00000620466.4:n.2178G>A
NM_015120.4:c.8378G>A , LRG_741t1:c.8378G>A	NP_055935.4:p.Arg2793Lys
NM_001378454.1:c.8375G>A MANE Select	NP_001365383.1:p.Arg2792Lys