Canonical Allele Identifier: CA1714439

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 426304
• ClinVar RCV Id: RCV000489619 ; RCV000526705 ; RCV002431428 ; RCV003323567
• dbSNP Id: rs369650940
• ExAC: 2:73717367 C / G
• gnomAD v2: 2-73717367-C-G
• gnomAD v3: 2-73490240-C-G
• gnomAD v4: 2-73490240-C-G
• MyVariant Identifiers: chr2:g.73717367C>G (hg19) ; chr2:g.73490240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490240C>G , CM000664.2:g.73490240C>G	GRCh38
NC_000002.11:g.73717367C>G , CM000664.1:g.73717367C>G	GRCh37
NC_000002.10:g.73570875C>G	NCBI36
NG_011690.1:g.109488C>G , LRG_741:g.109488C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7900C>G	ENSP00000507671.1:p.Pro2634Ala
ENST00000682801.1:c.7900C>G	ENSP00000507862.1:p.Pro2634Ala
ENST00000682859.1:c.7900C>G	ENSP00000508222.1:p.Pro2634Ala
ENST00000683791.1:c.1292C>G
ENST00000684460.1:c.5352C>G
ENST00000684548.1:c.7900C>G	ENSP00000507421.1:p.Pro2634Ala
ENST00000684590.1:c.2347C>G	ENSP00000507376.1:p.Pro783Ala
ENST00000684656.1:c.5352C>G
ENST00000613296.6:c.8281C>G MANE Select	ENSP00000482968.1:p.Pro2761Ala
ENST00000651434.1:c.896-29535C>G
ENST00000423048.5:c.3030+82C>G	ENSP00000399833.1:n.3030+82C>G
ENST00000484298.5:c.8155C>G	ENSP00000478155.1:p.Pro2719Ala
ENST00000613296.4:c.8281C>G	ENSP00000482968.1:p.Pro2761Ala
ENST00000614410.4:c.8281C>G	ENSP00000479094.1:p.Pro2761Ala
ENST00000620466.4:n.2084C>G
NM_015120.4:c.8284C>G , LRG_741t1:c.8284C>G	NP_055935.4:p.Pro2762Ala
NM_001378454.1:c.8281C>G MANE Select	NP_001365383.1:p.Pro2761Ala