Canonical Allele Identifier: CA1261033707

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601245G= , CM000664.2:g.73601245G=	GRCh38
NC_000002.11:g.73828372G= , CM000664.1:g.73828372G=	GRCh37
NC_000002.10:g.73681880G=	NCBI36
NG_011690.1:g.220493G= , LRG_741:g.220493G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11542G=	ENSP00000507671.1:p.Glu3848=
ENST00000682801.1:c.11167-940G=	ENSP00000507862.1:n.11167-940G=
ENST00000682859.1:c.11542G=	ENSP00000508222.1:p.Glu3848=
ENST00000683791.1:c.4628G=
ENST00000684460.1:c.8823G=
ENST00000684548.1:c.11542G=	ENSP00000507421.1:p.Glu3848=
ENST00000684590.1:c.5989G=	ENSP00000507376.1:p.Glu1997=
ENST00000684656.1:c.9007G=
ENST00000613296.6:c.11923G= MANE Select	ENSP00000482968.1:p.Glu3975=
ENST00000651057.1:c.2077G=	ENSP00000498504.1:p.Glu693=
ENST00000651434.1:c.3279G=
ENST00000651750.1:c.1260+364G=
ENST00000652487.1:c.3094G=
ENST00000464408.3:n.98G=
ENST00000484298.5:c.11797G=	ENSP00000478155.1:p.Glu3933=
ENST00000613296.4:c.11923G=	ENSP00000482968.1:p.Glu3975=
ENST00000620466.4:n.5726G=
NM_015120.4:c.11926G= , LRG_741t1:c.11926G=	NP_055935.4:p.Glu3976=
NM_001378454.1:c.11923G= MANE Select	NP_001365383.1:p.Glu3975=