Canonical Allele Identifier: CA347286020

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2199338
• ClinVar RCV Id: RCV002659627
• gnomAD v4: 2-73572762-C-T
• MyVariant Identifiers: chr2:g.73799889C>T (hg19) ; chr2:g.73572762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572762C>T , CM000664.2:g.73572762C>T	GRCh38
NC_000002.11:g.73799889C>T , CM000664.1:g.73799889C>T	GRCh37
NC_000002.10:g.73653397C>T	NCBI36
NG_011690.1:g.192010C>T , LRG_741:g.192010C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10504C>T	ENSP00000507671.1:p.Leu3502Phe
ENST00000682801.1:c.10504C>T	ENSP00000507862.1:p.Leu3502Phe
ENST00000682859.1:c.10504C>T	ENSP00000508222.1:p.Leu3502Phe
ENST00000683791.1:c.3590C>T
ENST00000684460.1:c.7785C>T
ENST00000684548.1:c.10504C>T	ENSP00000507421.1:p.Leu3502Phe
ENST00000684590.1:c.4951C>T	ENSP00000507376.1:p.Leu1651Phe
ENST00000684656.1:c.7830C>T
ENST00000613296.6:c.10885C>T MANE Select	ENSP00000482968.1:p.Leu3629Phe
ENST00000651057.1:c.1039C>T	ENSP00000498504.1:p.Leu347Phe
ENST00000651434.1:c.2241C>T
ENST00000651750.1:c.273C>T
ENST00000652487.1:c.1982C>T
ENST00000423048.5:c.4376C>T	ENSP00000399833.1:n.4376C>T
ENST00000484298.5:c.10759C>T	ENSP00000478155.1:p.Leu3587Phe
ENST00000613296.4:c.10885C>T	ENSP00000482968.1:p.Leu3629Phe
ENST00000614410.4:c.10885C>T	ENSP00000479094.1:p.Leu3629Phe
ENST00000620466.4:n.4688C>T
NM_015120.4:c.10888C>T , LRG_741t1:c.10888C>T	NP_055935.4:p.Leu3630Phe
NM_001378454.1:c.10885C>T MANE Select	NP_001365383.1:p.Leu3629Phe