Canonical Allele Identifier: CA1260981910

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490335A= , CM000664.2:g.73490335A=	GRCh38
NC_000002.11:g.73717462A= , CM000664.1:g.73717462A=	GRCh37
NC_000002.10:g.73570970A=	NCBI36
NG_011690.1:g.109583A= , LRG_741:g.109583A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7995A=	ENSP00000507671.1:p.Arg2665=
ENST00000682801.1:c.7995A=	ENSP00000507862.1:p.Arg2665=
ENST00000682859.1:c.7995A=	ENSP00000508222.1:p.Arg2665=
ENST00000683791.1:c.1387A=
ENST00000684460.1:c.5447A=
ENST00000684548.1:c.7995A=	ENSP00000507421.1:p.Arg2665=
ENST00000684590.1:c.2442A=	ENSP00000507376.1:p.Arg814=
ENST00000684656.1:c.5447A=
ENST00000613296.6:c.8376A= MANE Select	ENSP00000482968.1:p.Arg2792=
ENST00000651434.1:c.896-29440A=
ENST00000423048.5:c.3030+177A=	ENSP00000399833.1:n.3030+177A=
ENST00000484298.5:c.8250A=	ENSP00000478155.1:p.Arg2750=
ENST00000613296.4:c.8376A=	ENSP00000482968.1:p.Arg2792=
ENST00000614410.4:c.8376A=	ENSP00000479094.1:p.Arg2792=
ENST00000620466.4:n.2179A=
NM_015120.4:c.8379A= , LRG_741t1:c.8379A=	NP_055935.4:p.Arg2793=
NM_001378454.1:c.8376A= MANE Select	NP_001365383.1:p.Arg2792=