Canonical Allele Identifier: CA1714800

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 373258
• ClinVar RCV Id: RCV000413135 ; RCV000461539 ; RCV001172529 ; RCV001692093 ; RCV002379270
• dbSNP Id: rs58806616
• ExAC: 2:73762055 A / G
• gnomAD v2: 2-73762055-A-G
• gnomAD v3: 2-73534928-A-G
• gnomAD v4: 2-73534928-A-G
• MyVariant Identifiers: chr2:g.73762055A>G (hg19) ; chr2:g.73534928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73534928A>G , CM000664.2:g.73534928A>G	GRCh38
NC_000002.11:g.73762055A>G , CM000664.1:g.73762055A>G	GRCh37
NC_000002.10:g.73615563A>G	NCBI36
NG_011690.1:g.154176A>G , LRG_741:g.154176A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9505A>G	ENSP00000507671.1:p.Thr3169Ala
ENST00000682801.1:c.9505A>G	ENSP00000507862.1:p.Thr3169Ala
ENST00000682859.1:c.9505A>G	ENSP00000508222.1:p.Thr3169Ala
ENST00000683791.1:c.2897A>G
ENST00000684460.1:c.6957A>G
ENST00000684548.1:c.9505A>G	ENSP00000507421.1:p.Thr3169Ala
ENST00000684590.1:c.3952A>G	ENSP00000507376.1:p.Thr1318Ala
ENST00000684656.1:c.6852+14912A>G
ENST00000613296.6:c.9886A>G MANE Select	ENSP00000482968.1:p.Thr3296Ala
ENST00000651057.1:c.61+14912A>G	ENSP00000498504.1:n.61+14912A>G
ENST00000651434.1:c.1242A>G
ENST00000652487.1:c.983A>G
ENST00000423048.5:c.3377A>G	ENSP00000399833.1:n.3377A>G
ENST00000476650.2:n.177A>G
ENST00000484298.5:c.9760A>G	ENSP00000478155.1:p.Thr3254Ala
ENST00000613296.4:c.9886A>G	ENSP00000482968.1:p.Thr3296Ala
ENST00000614410.4:c.9886A>G	ENSP00000479094.1:p.Thr3296Ala
ENST00000620466.4:n.3689A>G
NM_015120.4:c.9889A>G , LRG_741t1:c.9889A>G	NP_055935.4:p.Thr3297Ala
NM_001378454.1:c.9886A>G MANE Select	NP_001365383.1:p.Thr3296Ala