Canonical Allele Identifier: CA1260981229

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489948A= , CM000664.2:g.73489948A=	GRCh38
NC_000002.11:g.73717075A= , CM000664.1:g.73717075A=	GRCh37
NC_000002.10:g.73570583A=	NCBI36
NG_011690.1:g.109196A= , LRG_741:g.109196A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7608A=	ENSP00000507671.1:p.Lys2536=
ENST00000682801.1:c.7608A=	ENSP00000507862.1:p.Lys2536=
ENST00000682859.1:c.7608A=	ENSP00000508222.1:p.Lys2536=
ENST00000683791.1:c.1000A=
ENST00000684460.1:c.5060A=
ENST00000684548.1:c.7608A=	ENSP00000507421.1:p.Lys2536=
ENST00000684590.1:c.2055A=	ENSP00000507376.1:p.Lys685=
ENST00000684656.1:c.5060A=
ENST00000613296.6:c.7989A= MANE Select	ENSP00000482968.1:p.Lys2663=
ENST00000651434.1:c.896-29827A=
ENST00000423048.5:c.2820A=	ENSP00000399833.1:p.Lys940=
ENST00000484298.5:c.7863A=	ENSP00000478155.1:p.Lys2621=
ENST00000613296.4:c.7989A=	ENSP00000482968.1:p.Lys2663=
ENST00000614410.4:c.7989A=	ENSP00000479094.1:p.Lys2663=
ENST00000620466.4:n.1792A=
NM_015120.4:c.7992A= , LRG_741t1:c.7992A=	NP_055935.4:p.Lys2664=
NM_001378454.1:c.7989A= MANE Select	NP_001365383.1:p.Lys2663=