Canonical Allele Identifier: CA1260981227

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489943T= , CM000664.2:g.73489943T=	GRCh38
NC_000002.11:g.73717070T= , CM000664.1:g.73717070T=	GRCh37
NC_000002.10:g.73570578T=	NCBI36
NG_011690.1:g.109191T= , LRG_741:g.109191T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7603T=	ENSP00000507671.1:p.Phe2535=
ENST00000682801.1:c.7603T=	ENSP00000507862.1:p.Phe2535=
ENST00000682859.1:c.7603T=	ENSP00000508222.1:p.Phe2535=
ENST00000683791.1:c.995T=
ENST00000684460.1:c.5055T=
ENST00000684548.1:c.7603T=	ENSP00000507421.1:p.Phe2535=
ENST00000684590.1:c.2050T=	ENSP00000507376.1:p.Phe684=
ENST00000684656.1:c.5055T=
ENST00000613296.6:c.7984T= MANE Select	ENSP00000482968.1:p.Phe2662=
ENST00000651434.1:c.896-29832T=
ENST00000423048.5:c.2815T=	ENSP00000399833.1:p.Phe939=
ENST00000484298.5:c.7858T=	ENSP00000478155.1:p.Phe2620=
ENST00000613296.4:c.7984T=	ENSP00000482968.1:p.Phe2662=
ENST00000614410.4:c.7984T=	ENSP00000479094.1:p.Phe2662=
ENST00000620466.4:n.1787T=
NM_015120.4:c.7987T= , LRG_741t1:c.7987T=	NP_055935.4:p.Phe2663=
NM_001378454.1:c.7984T= MANE Select	NP_001365383.1:p.Phe2662=