Canonical Allele Identifier: CA1261033904

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601338T= , CM000664.2:g.73601338T=	GRCh38
NC_000002.11:g.73828465T= , CM000664.1:g.73828465T=	GRCh37
NC_000002.10:g.73681973T=	NCBI36
NG_011690.1:g.220586T= , LRG_741:g.220586T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11635T=	ENSP00000507671.1:p.Cys3879=
ENST00000682801.1:c.11167-847T=	ENSP00000507862.1:n.11167-847T=
ENST00000682859.1:c.11635T=	ENSP00000508222.1:p.Cys3879=
ENST00000683791.1:c.4721T=
ENST00000684460.1:c.8916T=
ENST00000684548.1:c.11635T=	ENSP00000507421.1:p.Cys3879=
ENST00000684590.1:c.6082T=	ENSP00000507376.1:p.Cys2028=
ENST00000684656.1:c.9100T=
ENST00000613296.6:c.12016T= MANE Select	ENSP00000482968.1:p.Cys4006=
ENST00000651057.1:c.2170T=	ENSP00000498504.1:p.Cys724=
ENST00000651434.1:c.3372T=
ENST00000651750.1:c.1260+457T=
ENST00000652487.1:c.3187T=
ENST00000464408.3:n.191T=
ENST00000484298.5:c.11890T=	ENSP00000478155.1:p.Cys3964=
ENST00000613296.4:c.12016T=	ENSP00000482968.1:p.Cys4006=
ENST00000620466.4:n.5819T=
NM_015120.4:c.12019T= , LRG_741t1:c.12019T=	NP_055935.4:p.Cys4007=
NM_001378454.1:c.12016T= MANE Select	NP_001365383.1:p.Cys4006=