Canonical Allele Identifier: CA347266581

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2663278
• ClinVar RCV Id: RCV003442466
• gnomAD v4: 2-73601352-C-G
• MyVariant Identifiers: chr2:g.73828479C>G (hg19) ; chr2:g.73601352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601352C>G , CM000664.2:g.73601352C>G	GRCh38
NC_000002.11:g.73828479C>G , CM000664.1:g.73828479C>G	GRCh37
NC_000002.10:g.73681987C>G	NCBI36
NG_011690.1:g.220600C>G , LRG_741:g.220600C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11649C>G	ENSP00000507671.1:p.His3883Gln
ENST00000682801.1:c.11167-833C>G	ENSP00000507862.1:n.11167-833C>G
ENST00000682859.1:c.11649C>G	ENSP00000508222.1:p.His3883Gln
ENST00000683791.1:c.4735C>G
ENST00000684460.1:c.8930C>G
ENST00000684548.1:c.11649C>G	ENSP00000507421.1:p.His3883Gln
ENST00000684590.1:c.6096C>G	ENSP00000507376.1:p.His2032Gln
ENST00000684656.1:c.9114C>G
ENST00000613296.6:c.12030C>G MANE Select	ENSP00000482968.1:p.His4010Gln
ENST00000651057.1:c.2184C>G	ENSP00000498504.1:p.His728Gln
ENST00000651434.1:c.3386C>G
ENST00000651750.1:c.1260+471C>G
ENST00000652487.1:c.3201C>G
ENST00000464408.3:n.205C>G
ENST00000484298.5:c.11904C>G	ENSP00000478155.1:p.His3968Gln
ENST00000613296.4:c.12030C>G	ENSP00000482968.1:p.His4010Gln
ENST00000620466.4:n.5833C>G
NM_015120.4:c.12033C>G , LRG_741t1:c.12033C>G	NP_055935.4:p.His4011Gln
NM_001378454.1:c.12030C>G MANE Select	NP_001365383.1:p.His4010Gln