Canonical Allele Identifier: CA1261034067

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601406A= , CM000664.2:g.73601406A=	GRCh38
NC_000002.11:g.73828533A= , CM000664.1:g.73828533A=	GRCh37
NC_000002.10:g.73682041A=	NCBI36
NG_011690.1:g.220654A= , LRG_741:g.220654A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11703A=	ENSP00000507671.1:p.Leu3901=
ENST00000682801.1:c.11167-779A=	ENSP00000507862.1:n.11167-779A=
ENST00000682859.1:c.11703A=	ENSP00000508222.1:p.Leu3901=
ENST00000683791.1:c.4789A=
ENST00000684460.1:c.8984A=
ENST00000684548.1:c.11703A=	ENSP00000507421.1:p.Leu3901=
ENST00000684590.1:c.6150A=	ENSP00000507376.1:p.Leu2050=
ENST00000684656.1:c.9168A=
ENST00000613296.6:c.12084A= MANE Select	ENSP00000482968.1:p.Leu4028=
ENST00000651057.1:c.2238A=	ENSP00000498504.1:p.Leu746=
ENST00000651434.1:c.3440A=
ENST00000651750.1:c.1260+525A=
ENST00000652487.1:c.3255A=
ENST00000464408.3:n.259A=
ENST00000484298.5:c.11958A=	ENSP00000478155.1:p.Leu3986=
ENST00000613296.4:c.12084A=	ENSP00000482968.1:p.Leu4028=
ENST00000620466.4:n.5887A=
NM_015120.4:c.12087A= , LRG_741t1:c.12087A=	NP_055935.4:p.Leu4029=
NM_001378454.1:c.12084A= MANE Select	NP_001365383.1:p.Leu4028=