Canonical Allele Identifier: CA1715336

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73600849A>G , CM000664.2:g.73600849A>G	GRCh38
NC_000002.11:g.73827976A>G , CM000664.1:g.73827976A>G	GRCh37
NC_000002.10:g.73681484A>G	NCBI36
NG_011690.1:g.220097A>G , LRG_741:g.220097A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11840A>G MANE Select	NP_001365383.1:p.Lys3947Arg
ENST00000613296.6:c.11840A>G MANE Select	ENSP00000482968.1:p.Lys3947Arg
NM_015120.4:c.11843A>G , LRG_741t1:c.11843A>G	NP_055935.4:p.Lys3948Arg
ENST00000464408.3:n.15A>G
ENST00000484298.5:c.11714A>G	ENSP00000478155.1:p.Lys3905Arg
ENST00000613296.4:c.11840A>G	ENSP00000482968.1:p.Lys3947Arg
ENST00000620466.4:n.5643A>G
ENST00000651057.1:c.1994A>G	ENSP00000498504.1:p.Lys665Arg
ENST00000651434.1:c.3196A>G
ENST00000651750.1:c.1228A>G
ENST00000652487.1:c.3011A>G
ENST00000682565.1:c.11459A>G	ENSP00000507671.1:p.Lys3820Arg
ENST00000682801.1:c.11167-1336A>G	ENSP00000507862.1:n.11167-1336A>G
ENST00000682859.1:c.11459A>G	ENSP00000508222.1:p.Lys3820Arg
ENST00000683791.1:c.4545A>G
ENST00000684460.1:c.8740A>G
ENST00000684548.1:c.11459A>G	ENSP00000507421.1:p.Lys3820Arg
ENST00000684590.1:c.5906A>G	ENSP00000507376.1:p.Lys1969Arg
ENST00000684656.1:c.8924A>G