Canonical Allele Identifier: CA347286102

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1442574
• ClinVar RCV Id: RCV001969882
• dbSNP Id: rs1573030520
• gnomAD v4: 2-73572783-C-A
• MyVariant Identifiers: chr2:g.73799910C>A (hg19) ; chr2:g.73572783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572783C>A , CM000664.2:g.73572783C>A	GRCh38
NC_000002.11:g.73799910C>A , CM000664.1:g.73799910C>A	GRCh37
NC_000002.10:g.73653418C>A	NCBI36
NG_011690.1:g.192031C>A , LRG_741:g.192031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10525C>A	ENSP00000507671.1:p.Leu3509Ile
ENST00000682801.1:c.10525C>A	ENSP00000507862.1:p.Leu3509Ile
ENST00000682859.1:c.10525C>A	ENSP00000508222.1:p.Leu3509Ile
ENST00000683791.1:c.3611C>A
ENST00000684460.1:c.7806C>A
ENST00000684548.1:c.10525C>A	ENSP00000507421.1:p.Leu3509Ile
ENST00000684590.1:c.4972C>A	ENSP00000507376.1:p.Leu1658Ile
ENST00000684656.1:c.7851C>A
ENST00000613296.6:c.10906C>A MANE Select	ENSP00000482968.1:p.Leu3636Ile
ENST00000651057.1:c.1060C>A	ENSP00000498504.1:p.Leu354Ile
ENST00000651434.1:c.2262C>A
ENST00000651750.1:c.294C>A
ENST00000652487.1:c.2003C>A
ENST00000423048.5:c.4397C>A	ENSP00000399833.1:n.4397C>A
ENST00000484298.5:c.10780C>A	ENSP00000478155.1:p.Leu3594Ile
ENST00000613296.4:c.10906C>A	ENSP00000482968.1:p.Leu3636Ile
ENST00000614410.4:c.10906C>A	ENSP00000479094.1:p.Leu3636Ile
ENST00000620466.4:n.4709C>A
NM_015120.4:c.10909C>A , LRG_741t1:c.10909C>A	NP_055935.4:p.Leu3637Ile
NM_001378454.1:c.10906C>A MANE Select	NP_001365383.1:p.Leu3636Ile