Canonical Allele Identifier: CA347284071

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1435167
• ClinVar RCV Id: RCV001955267
• dbSNP Id: rs769907792
• gnomAD v2: 2-73799607-A-G
• gnomAD v4: 2-73572480-A-G
• MyVariant Identifiers: chr2:g.73799607A>G (hg19) ; chr2:g.73572480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572480A>G , CM000664.2:g.73572480A>G	GRCh38
NC_000002.11:g.73799607A>G , CM000664.1:g.73799607A>G	GRCh37
NC_000002.10:g.73653115A>G	NCBI36
NG_011690.1:g.191728A>G , LRG_741:g.191728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10222A>G	ENSP00000507671.1:p.Met3408Val
ENST00000682801.1:c.10222A>G	ENSP00000507862.1:p.Met3408Val
ENST00000682859.1:c.10222A>G	ENSP00000508222.1:p.Met3408Val
ENST00000683791.1:c.3308A>G
ENST00000684460.1:c.7503A>G
ENST00000684548.1:c.10222A>G	ENSP00000507421.1:p.Met3408Val
ENST00000684590.1:c.4669A>G	ENSP00000507376.1:p.Met1557Val
ENST00000684656.1:c.7548A>G
ENST00000613296.6:c.10603A>G MANE Select	ENSP00000482968.1:p.Met3535Val
ENST00000651057.1:c.757A>G	ENSP00000498504.1:p.Met253Val
ENST00000651434.1:c.1959A>G
ENST00000652487.1:c.1700A>G
ENST00000423048.5:c.4094A>G	ENSP00000399833.1:n.4094A>G
ENST00000484298.5:c.10477A>G	ENSP00000478155.1:p.Met3493Val
ENST00000613296.4:c.10603A>G	ENSP00000482968.1:p.Met3535Val
ENST00000614410.4:c.10603A>G	ENSP00000479094.1:p.Met3535Val
ENST00000620466.4:n.4406A>G
NM_015120.4:c.10606A>G , LRG_741t1:c.10606A>G	NP_055935.4:p.Met3536Val
NM_001378454.1:c.10603A>G MANE Select	NP_001365383.1:p.Met3535Val