Canonical Allele Identifier: CA350101

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 220880
• ClinVar RCV Id: RCV000224192 ; RCV000445400 ; RCV000444233 ; RCV001082528 ; RCV002453744
• dbSNP Id: rs28730849
• ExAC: 2:73651937 A / G
• gnomAD v2: 2-73651937-A-G
• gnomAD v3: 2-73424809-A-G
• gnomAD v4: 2-73424809-A-G
• MyVariant Identifiers: chr2:g.73651937A>G (hg19) ; chr2:g.73424809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73424809A>G , CM000664.2:g.73424809A>G	GRCh38
NC_000002.11:g.73651937A>G , CM000664.1:g.73651937A>G	GRCh37
NC_000002.10:g.73505445A>G	NCBI36
NG_011690.1:g.44055A>G , LRG_741:g.44055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.694A>G	ENSP00000507671.1:p.Thr232Ala
ENST00000682675.1:n.1104A>G
ENST00000682801.1:c.694A>G	ENSP00000507862.1:p.Thr232Ala
ENST00000682859.1:c.694A>G	ENSP00000508222.1:p.Thr232Ala
ENST00000682889.1:n.1109A>G
ENST00000683791.1:c.498A>G
ENST00000684548.1:c.694A>G	ENSP00000507421.1:p.Thr232Ala
ENST00000613296.6:c.1144A>G MANE Select	ENSP00000482968.1:p.Thr382Ala
ENST00000484298.5:c.1018A>G	ENSP00000478155.1:p.Thr340Ala
ENST00000613296.4:c.1144A>G	ENSP00000482968.1:p.Thr382Ala
ENST00000614410.4:c.1144A>G	ENSP00000479094.1:p.Thr382Ala
NM_015120.4:c.1147A>G , LRG_741t1:c.1147A>G	NP_055935.4:p.Thr383Ala
NM_001378454.1:c.1144A>G MANE Select	NP_001365383.1:p.Thr382Ala