Canonical Allele Identifier: CA1715478

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73602268G>A , CM000664.2:g.73602268G>A	GRCh38
NC_000002.11:g.73829395G>A , CM000664.1:g.73829395G>A	GRCh37
NC_000002.10:g.73682903G>A	NCBI36
NG_011690.1:g.221516G>A , LRG_741:g.221516G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12198G>A MANE Select	NP_001365383.1:p.Arg4066=
ENST00000613296.6:c.12198G>A MANE Select	ENSP00000482968.1:p.Arg4066=
NM_015120.4:c.12201G>A , LRG_741t1:c.12201G>A	NP_055935.4:p.Arg4067=
ENST00000464408.3:n.373G>A
ENST00000484298.5:c.12072G>A	ENSP00000478155.1:p.Arg4024=
ENST00000613296.4:c.12198G>A	ENSP00000482968.1:p.Arg4066=
ENST00000620466.4:n.6001G>A
ENST00000651057.1:c.2352G>A	ENSP00000498504.1:p.Arg784=
ENST00000651434.1:c.3554G>A
ENST00000651750.1:c.1344G>A
ENST00000652487.1:c.3369G>A
ENST00000682565.1:c.11817G>A	ENSP00000507671.1:p.Arg3939=
ENST00000682801.1:c.11250G>A	ENSP00000507862.1:p.Arg3750=
ENST00000682859.1:c.11817G>A	ENSP00000508222.1:p.Arg3939=
ENST00000683791.1:c.4903G>A
ENST00000684460.1:c.9098G>A
ENST00000684548.1:c.11817G>A	ENSP00000507421.1:p.Arg3939=
ENST00000684590.1:c.6264G>A	ENSP00000507376.1:p.Arg2088=
ENST00000684656.1:c.9282G>A