Canonical Allele Identifier: CA1260998657

Gene: ALMS1

Linked Data

• dbSNP Id: rs1673766688

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73525282A>G , CM000664.2:g.73525282A>G	GRCh38
NC_000002.11:g.73752409A>G , CM000664.1:g.73752409A>G	GRCh37
NC_000002.10:g.73605917A>G	NCBI36
NG_011690.1:g.144530A>G , LRG_741:g.144530A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.9400+5266A>G	ENSP00000507671.1:n.9400+5266A>G
ENST00000682801.1:c.9400+5266A>G	ENSP00000507862.1:n.9400+5266A>G
ENST00000682859.1:c.9400+5266A>G	ENSP00000508222.1:n.9400+5266A>G
ENST00000683791.1:c.2792+5266A>G
ENST00000684460.1:c.6852+5266A>G
ENST00000684548.1:c.9400+5266A>G	ENSP00000507421.1:n.9400+5266A>G
ENST00000684590.1:c.3847+5266A>G	ENSP00000507376.1:n.3847+5266A>G
ENST00000684656.1:c.6852+5266A>G
ENST00000613296.6:c.9781+5266A>G MANE Select	ENSP00000482968.1:n.9781+5266A>G
ENST00000651057.1:c.61+5266A>G	ENSP00000498504.1:n.61+5266A>G
ENST00000651434.1:c.1137+5266A>G
ENST00000652487.1:c.878+5266A>G
ENST00000423048.5:c.3272+5266A>G	ENSP00000399833.1:n.3272+5266A>G
ENST00000476650.2:n.72+5266A>G
ENST00000484298.5:c.9655+5266A>G	ENSP00000478155.1:n.9655+5266A>G
ENST00000613296.4:c.9781+5266A>G	ENSP00000482968.1:n.9781+5266A>G
ENST00000614410.4:c.9781+5266A>G	ENSP00000479094.1:n.9781+5266A>G
ENST00000620466.4:n.3584+5266A>G
NM_015120.4:c.9784+5266A>G , LRG_741t1:c.9784+5266A>G	NP_055935.4:n.9784+5266A>G
NM_001378454.1:c.9781+5266A>G MANE Select	NP_001365383.1:n.9781+5266A>G