Canonical Allele Identifier: CA1715526

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73603252A>G , CM000664.2:g.73603252A>G	GRCh38
NC_000002.11:g.73830379A>G , CM000664.1:g.73830379A>G	GRCh37
NC_000002.10:g.73683887A>G	NCBI36
NG_011690.1:g.222500A>G , LRG_741:g.222500A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12310A>G MANE Select	NP_001365383.1:p.Ile4104Val
ENST00000613296.6:c.12310A>G MANE Select	ENSP00000482968.1:p.Ile4104Val
NM_015120.4:c.12313A>G , LRG_741t1:c.12313A>G	NP_055935.4:p.Ile4105Val
ENST00000464408.3:n.485A>G
ENST00000484298.5:c.12184A>G	ENSP00000478155.1:p.Ile4062Val
ENST00000613296.4:c.12310A>G	ENSP00000482968.1:p.Ile4104Val
ENST00000620466.4:n.6113A>G
ENST00000651057.1:c.2464A>G	ENSP00000498504.1:p.Ile822Val
ENST00000651434.1:c.3666A>G
ENST00000651750.1:c.1456A>G
ENST00000652487.1:c.3481A>G
ENST00000682565.1:c.11929A>G	ENSP00000507671.1:p.Ile3977Val
ENST00000682801.1:c.11362A>G	ENSP00000507862.1:p.Ile3788Val
ENST00000682859.1:c.11929A>G	ENSP00000508222.1:p.Ile3977Val
ENST00000683791.1:c.5015A>G
ENST00000684460.1:c.9210A>G
ENST00000684548.1:c.11929A>G	ENSP00000507421.1:p.Ile3977Val
ENST00000684590.1:c.6376A>G	ENSP00000507376.1:p.Ile2126Val
ENST00000684656.1:c.9394A>G