Canonical Allele Identifier: CA1261022102

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572904A= , CM000664.2:g.73572904A=	GRCh38
NC_000002.11:g.73800031A= , CM000664.1:g.73800031A=	GRCh37
NC_000002.10:g.73653539A=	NCBI36
NG_011690.1:g.192152A= , LRG_741:g.192152A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10646A=	ENSP00000507671.1:p.Lys3549=
ENST00000682801.1:c.10646A=	ENSP00000507862.1:p.Lys3549=
ENST00000682859.1:c.10646A=	ENSP00000508222.1:p.Lys3549=
ENST00000683791.1:c.3732A=
ENST00000684460.1:c.7927A=
ENST00000684548.1:c.10646A=	ENSP00000507421.1:p.Lys3549=
ENST00000684590.1:c.5093A=	ENSP00000507376.1:p.Lys1698=
ENST00000684656.1:c.7972A=
ENST00000613296.6:c.11027A= MANE Select	ENSP00000482968.1:p.Lys3676=
ENST00000651057.1:c.1181A=	ENSP00000498504.1:p.Lys394=
ENST00000651434.1:c.2383A=
ENST00000651750.1:c.415A=
ENST00000652487.1:c.2124A=
ENST00000423048.5:c.4518A=	ENSP00000399833.1:n.4518A=
ENST00000484298.5:c.10901A=	ENSP00000478155.1:p.Lys3634=
ENST00000613296.4:c.11027A=	ENSP00000482968.1:p.Lys3676=
ENST00000614410.4:c.11027A=	ENSP00000479094.1:p.Lys3676=
ENST00000620466.4:n.4830A=
NM_015120.4:c.11030A= , LRG_741t1:c.11030A=	NP_055935.4:p.Lys3677=
NM_001378454.1:c.11027A= MANE Select	NP_001365383.1:p.Lys3676=