Canonical Allele Identifier: CA347285019

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1310893
• ClinVar RCV Id: RCV001758402 ; RCV002489783
• dbSNP Id: rs2104104820
• gnomAD v4: 2-73572586-A-G
• MyVariant Identifiers: chr2:g.73799713A>G (hg19) ; chr2:g.73572586A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572586A>G , CM000664.2:g.73572586A>G	GRCh38
NC_000002.11:g.73799713A>G , CM000664.1:g.73799713A>G	GRCh37
NC_000002.10:g.73653221A>G	NCBI36
NG_011690.1:g.191834A>G , LRG_741:g.191834A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10328A>G	ENSP00000507671.1:p.Tyr3443Cys
ENST00000682801.1:c.10328A>G	ENSP00000507862.1:p.Tyr3443Cys
ENST00000682859.1:c.10328A>G	ENSP00000508222.1:p.Tyr3443Cys
ENST00000683791.1:c.3414A>G
ENST00000684460.1:c.7609A>G
ENST00000684548.1:c.10328A>G	ENSP00000507421.1:p.Tyr3443Cys
ENST00000684590.1:c.4775A>G	ENSP00000507376.1:p.Tyr1592Cys
ENST00000684656.1:c.7654A>G
ENST00000613296.6:c.10709A>G MANE Select	ENSP00000482968.1:p.Tyr3570Cys
ENST00000651057.1:c.863A>G	ENSP00000498504.1:p.Tyr288Cys
ENST00000651434.1:c.2065A>G
ENST00000651750.1:c.97A>G
ENST00000652487.1:c.1806A>G
ENST00000423048.5:c.4200A>G	ENSP00000399833.1:n.4200A>G
ENST00000484298.5:c.10583A>G	ENSP00000478155.1:p.Tyr3528Cys
ENST00000613296.4:c.10709A>G	ENSP00000482968.1:p.Tyr3570Cys
ENST00000614410.4:c.10709A>G	ENSP00000479094.1:p.Tyr3570Cys
ENST00000620466.4:n.4512A>G
NM_015120.4:c.10712A>G , LRG_741t1:c.10712A>G	NP_055935.4:p.Tyr3571Cys
NM_001378454.1:c.10709A>G MANE Select	NP_001365383.1:p.Tyr3570Cys