Canonical Allele Identifier: CA1261021830

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572743A= , CM000664.2:g.73572743A=	GRCh38
NC_000002.11:g.73799870A= , CM000664.1:g.73799870A=	GRCh37
NC_000002.10:g.73653378A=	NCBI36
NG_011690.1:g.191991A= , LRG_741:g.191991A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10485A=	ENSP00000507671.1:p.Glu3495=
ENST00000682801.1:c.10485A=	ENSP00000507862.1:p.Glu3495=
ENST00000682859.1:c.10485A=	ENSP00000508222.1:p.Glu3495=
ENST00000683791.1:c.3571A=
ENST00000684460.1:c.7766A=
ENST00000684548.1:c.10485A=	ENSP00000507421.1:p.Glu3495=
ENST00000684590.1:c.4932A=	ENSP00000507376.1:p.Glu1644=
ENST00000684656.1:c.7811A=
ENST00000613296.6:c.10866A= MANE Select	ENSP00000482968.1:p.Glu3622=
ENST00000651057.1:c.1020A=	ENSP00000498504.1:p.Glu340=
ENST00000651434.1:c.2222A=
ENST00000651750.1:c.254A=
ENST00000652487.1:c.1963A=
ENST00000423048.5:c.4357A=	ENSP00000399833.1:n.4357A=
ENST00000484298.5:c.10740A=	ENSP00000478155.1:p.Glu3580=
ENST00000613296.4:c.10866A=	ENSP00000482968.1:p.Glu3622=
ENST00000614410.4:c.10866A=	ENSP00000479094.1:p.Glu3622=
ENST00000620466.4:n.4669A=
NM_015120.4:c.10869A= , LRG_741t1:c.10869A=	NP_055935.4:p.Glu3623=
NM_001378454.1:c.10866A= MANE Select	NP_001365383.1:p.Glu3622=