Canonical Allele Identifier: CA1715200

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73573340G>A , CM000664.2:g.73573340G>A	GRCh38
NC_000002.11:g.73800467G>A , CM000664.1:g.73800467G>A	GRCh37
NC_000002.10:g.73653975G>A	NCBI36
NG_011690.1:g.192588G>A , LRG_741:g.192588G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11463G>A MANE Select	NP_001365383.1:p.Glu3821=
ENST00000613296.6:c.11463G>A MANE Select	ENSP00000482968.1:p.Glu3821=
NM_015120.4:c.11466G>A , LRG_741t1:c.11466G>A	NP_055935.4:p.Glu3822=
ENST00000423048.5:c.4954G>A	ENSP00000399833.1:n.4954G>A
ENST00000484298.5:c.11337G>A	ENSP00000478155.1:p.Glu3779=
ENST00000613296.4:c.11463G>A	ENSP00000482968.1:p.Glu3821=
ENST00000614410.4:c.11463G>A	ENSP00000479094.1:p.Glu3821=
ENST00000620466.4:n.5266G>A
ENST00000651057.1:c.1617G>A	ENSP00000498504.1:p.Glu539=
ENST00000651434.1:c.2819G>A
ENST00000651750.1:c.851G>A
ENST00000652487.1:c.2560G>A
ENST00000682565.1:c.11082G>A	ENSP00000507671.1:p.Glu3694=
ENST00000682801.1:c.11082G>A	ENSP00000507862.1:p.Glu3694=
ENST00000682859.1:c.11082G>A	ENSP00000508222.1:p.Glu3694=
ENST00000683791.1:c.4168G>A
ENST00000684460.1:c.8363G>A
ENST00000684548.1:c.11082G>A	ENSP00000507421.1:p.Glu3694=
ENST00000684590.1:c.5529G>A	ENSP00000507376.1:p.Glu1843=
ENST00000684656.1:c.8408G>A