Canonical Allele Identifier: CA658795821

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 529378
• ClinVar RCV Id: RCV000634789
• dbSNP Id: rs1553422641
• MyVariant Identifiers: chr2:g.73835596T>G (hg19) ; chr2:g.73608469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73608469T>G , CM000664.2:g.73608469T>G	GRCh38
NC_000002.11:g.73835596T>G , CM000664.1:g.73835596T>G	GRCh37
NC_000002.10:g.73689104T>G	NCBI36
NG_011690.1:g.227717T>G , LRG_741:g.227717T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.12060-6T>G	ENSP00000507671.1:n.12060-6T>G
ENST00000682801.1:c.11415-6T>G	ENSP00000507862.1:n.11415-6T>G
ENST00000682859.1:c.11982-6T>G	ENSP00000508222.1:n.11982-6T>G
ENST00000683108.1:n.99T>G
ENST00000683147.1:n.3436T>G
ENST00000683791.1:c.5068-6T>G
ENST00000684460.1:c.9263-6T>G
ENST00000684548.1:c.11982-6T>G	ENSP00000507421.1:n.11982-6T>G
ENST00000684590.1:c.6429-6T>G	ENSP00000507376.1:n.6429-6T>G
ENST00000684656.1:c.9447-6T>G
ENST00000613296.6:c.12363-6T>G MANE Select	ENSP00000482968.1:n.12363-6T>G
ENST00000651057.1:c.2517-6T>G	ENSP00000498504.1:n.2517-6T>G
ENST00000651434.1:c.3719-6T>G
ENST00000651750.1:c.1509-6T>G
ENST00000652487.1:c.3534-6T>G
ENST00000464408.3:n.599-6T>G
ENST00000484298.5:c.12237-6T>G	ENSP00000478155.1:n.12237-6T>G
ENST00000490821.1:n.7-6T>G
ENST00000613296.4:c.12363-6T>G	ENSP00000482968.1:n.12363-6T>G
NM_015120.4:c.12366-6T>G , LRG_741t1:c.12366-6T>G	NP_055935.4:n.12366-6T>G
NM_001378454.1:c.12363-6T>G MANE Select	NP_001365383.1:n.12363-6T>G