Canonical Allele Identifier: CA1260981127

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489723G= , CM000664.2:g.73489723G=	GRCh38
NC_000002.11:g.73716850G= , CM000664.1:g.73716850G=	GRCh37
NC_000002.10:g.73570358G=	NCBI36
NG_011690.1:g.108971G= , LRG_741:g.108971G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7383G=	ENSP00000507671.1:p.Arg2461=
ENST00000682801.1:c.7383G=	ENSP00000507862.1:p.Arg2461=
ENST00000682859.1:c.7383G=	ENSP00000508222.1:p.Arg2461=
ENST00000683791.1:c.775G=
ENST00000684460.1:c.4835G=
ENST00000684548.1:c.7383G=	ENSP00000507421.1:p.Arg2461=
ENST00000684590.1:c.1830G=	ENSP00000507376.1:p.Arg610=
ENST00000684656.1:c.4835G=
ENST00000613296.6:c.7764G= MANE Select	ENSP00000482968.1:p.Arg2588=
ENST00000651434.1:c.896-30052G=
ENST00000423048.5:c.2595G=	ENSP00000399833.1:p.Arg865=
ENST00000484298.5:c.7638G=	ENSP00000478155.1:p.Arg2546=
ENST00000613296.4:c.7764G=	ENSP00000482968.1:p.Arg2588=
ENST00000614410.4:c.7764G=	ENSP00000479094.1:p.Arg2588=
ENST00000620466.4:n.1567G=
NM_015120.4:c.7767G= , LRG_741t1:c.7767G=	NP_055935.4:p.Arg2589=
NM_001378454.1:c.7764G= MANE Select	NP_001365383.1:p.Arg2588=