Canonical Allele Identifier: CA1714456

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 499776
• ClinVar RCV Id: RCV000595220 ; RCV000794425 ; RCV001175497 ; RCV002438538
• dbSNP Id: rs200075429
• ExAC: 2:73717445 A / G
• gnomAD v2: 2-73717445-A-G
• gnomAD v3: 2-73490318-A-G
• gnomAD v4: 2-73490318-A-G
• MyVariant Identifiers: chr2:g.73717445A>G (hg19) ; chr2:g.73490318A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490318A>G , CM000664.2:g.73490318A>G	GRCh38
NC_000002.11:g.73717445A>G , CM000664.1:g.73717445A>G	GRCh37
NC_000002.10:g.73570953A>G	NCBI36
NG_011690.1:g.109566A>G , LRG_741:g.109566A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7978A>G	ENSP00000507671.1:p.Ile2660Val
ENST00000682801.1:c.7978A>G	ENSP00000507862.1:p.Ile2660Val
ENST00000682859.1:c.7978A>G	ENSP00000508222.1:p.Ile2660Val
ENST00000683791.1:c.1370A>G
ENST00000684460.1:c.5430A>G
ENST00000684548.1:c.7978A>G	ENSP00000507421.1:p.Ile2660Val
ENST00000684590.1:c.2425A>G	ENSP00000507376.1:p.Ile809Val
ENST00000684656.1:c.5430A>G
ENST00000613296.6:c.8359A>G MANE Select	ENSP00000482968.1:p.Ile2787Val
ENST00000651434.1:c.896-29457A>G
ENST00000423048.5:c.3030+160A>G	ENSP00000399833.1:n.3030+160A>G
ENST00000484298.5:c.8233A>G	ENSP00000478155.1:p.Ile2745Val
ENST00000613296.4:c.8359A>G	ENSP00000482968.1:p.Ile2787Val
ENST00000614410.4:c.8359A>G	ENSP00000479094.1:p.Ile2787Val
ENST00000620466.4:n.2162A>G
NM_015120.4:c.8362A>G , LRG_741t1:c.8362A>G	NP_055935.4:p.Ile2788Val
NM_001378454.1:c.8359A>G MANE Select	NP_001365383.1:p.Ile2787Val