Canonical Allele Identifier: CA347266742

Gene: ALMS1

Linked Data

• dbSNP Id: rs1351891365
• gnomAD v2: 2-73828498-C-G
• gnomAD v3: 2-73601371-C-G
• gnomAD v4: 2-73601371-C-G
• MyVariant Identifiers: chr2:g.73828498C>G (hg19) ; chr2:g.73601371C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601371C>G , CM000664.2:g.73601371C>G	GRCh38
NC_000002.11:g.73828498C>G , CM000664.1:g.73828498C>G	GRCh37
NC_000002.10:g.73682006C>G	NCBI36
NG_011690.1:g.220619C>G , LRG_741:g.220619C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11668C>G	ENSP00000507671.1:p.Leu3890Val
ENST00000682801.1:c.11167-814C>G	ENSP00000507862.1:n.11167-814C>G
ENST00000682859.1:c.11668C>G	ENSP00000508222.1:p.Leu3890Val
ENST00000683791.1:c.4754C>G
ENST00000684460.1:c.8949C>G
ENST00000684548.1:c.11668C>G	ENSP00000507421.1:p.Leu3890Val
ENST00000684590.1:c.6115C>G	ENSP00000507376.1:p.Leu2039Val
ENST00000684656.1:c.9133C>G
ENST00000613296.6:c.12049C>G MANE Select	ENSP00000482968.1:p.Leu4017Val
ENST00000651057.1:c.2203C>G	ENSP00000498504.1:p.Leu735Val
ENST00000651434.1:c.3405C>G
ENST00000651750.1:c.1260+490C>G
ENST00000652487.1:c.3220C>G
ENST00000464408.3:n.224C>G
ENST00000484298.5:c.11923C>G	ENSP00000478155.1:p.Leu3975Val
ENST00000613296.4:c.12049C>G	ENSP00000482968.1:p.Leu4017Val
ENST00000620466.4:n.5852C>G
NM_015120.4:c.12052C>G , LRG_741t1:c.12052C>G	NP_055935.4:p.Leu4018Val
NM_001378454.1:c.12049C>G MANE Select	NP_001365383.1:p.Leu4017Val