Canonical Allele Identifier: CA347268370

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1343661
• ClinVar RCV Id: RCV002406907 ; RCV001844678 ; RCV002543327
• dbSNP Id: rs1672950843
• gnomAD v4: 2-73490304-A-G
• MyVariant Identifiers: chr2:g.73717431A>G (hg19) ; chr2:g.73490304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490304A>G , CM000664.2:g.73490304A>G	GRCh38
NC_000002.11:g.73717431A>G , CM000664.1:g.73717431A>G	GRCh37
NC_000002.10:g.73570939A>G	NCBI36
NG_011690.1:g.109552A>G , LRG_741:g.109552A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7964A>G	ENSP00000507671.1:p.Asp2655Gly
ENST00000682801.1:c.7964A>G	ENSP00000507862.1:p.Asp2655Gly
ENST00000682859.1:c.7964A>G	ENSP00000508222.1:p.Asp2655Gly
ENST00000683791.1:c.1356A>G
ENST00000684460.1:c.5416A>G
ENST00000684548.1:c.7964A>G	ENSP00000507421.1:p.Asp2655Gly
ENST00000684590.1:c.2411A>G	ENSP00000507376.1:p.Asp804Gly
ENST00000684656.1:c.5416A>G
ENST00000613296.6:c.8345A>G MANE Select	ENSP00000482968.1:p.Asp2782Gly
ENST00000651434.1:c.896-29471A>G
ENST00000423048.5:c.3030+146A>G	ENSP00000399833.1:n.3030+146A>G
ENST00000484298.5:c.8219A>G	ENSP00000478155.1:p.Asp2740Gly
ENST00000613296.4:c.8345A>G	ENSP00000482968.1:p.Asp2782Gly
ENST00000614410.4:c.8345A>G	ENSP00000479094.1:p.Asp2782Gly
ENST00000620466.4:n.2148A>G
NM_015120.4:c.8348A>G , LRG_741t1:c.8348A>G	NP_055935.4:p.Asp2783Gly
NM_001378454.1:c.8345A>G MANE Select	NP_001365383.1:p.Asp2782Gly