Canonical Allele Identifier: CA1261022036

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572850G= , CM000664.2:g.73572850G=	GRCh38
NC_000002.11:g.73799977G= , CM000664.1:g.73799977G=	GRCh37
NC_000002.10:g.73653485G=	NCBI36
NG_011690.1:g.192098G= , LRG_741:g.192098G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10592G=	ENSP00000507671.1:p.Arg3531=
ENST00000682801.1:c.10592G=	ENSP00000507862.1:p.Arg3531=
ENST00000682859.1:c.10592G=	ENSP00000508222.1:p.Arg3531=
ENST00000683791.1:c.3678G=
ENST00000684460.1:c.7873G=
ENST00000684548.1:c.10592G=	ENSP00000507421.1:p.Arg3531=
ENST00000684590.1:c.5039G=	ENSP00000507376.1:p.Arg1680=
ENST00000684656.1:c.7918G=
ENST00000613296.6:c.10973G= MANE Select	ENSP00000482968.1:p.Arg3658=
ENST00000651057.1:c.1127G=	ENSP00000498504.1:p.Arg376=
ENST00000651434.1:c.2329G=
ENST00000651750.1:c.361G=
ENST00000652487.1:c.2070G=
ENST00000423048.5:c.4464G=	ENSP00000399833.1:n.4464G=
ENST00000484298.5:c.10847G=	ENSP00000478155.1:p.Arg3616=
ENST00000613296.4:c.10973G=	ENSP00000482968.1:p.Arg3658=
ENST00000614410.4:c.10973G=	ENSP00000479094.1:p.Arg3658=
ENST00000620466.4:n.4776G=
NM_015120.4:c.10976G= , LRG_741t1:c.10976G=	NP_055935.4:p.Arg3659=
NM_001378454.1:c.10973G= MANE Select	NP_001365383.1:p.Arg3658=