Canonical Allele Identifier: CA1260981265

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490003G= , CM000664.2:g.73490003G=	GRCh38
NC_000002.11:g.73717130G= , CM000664.1:g.73717130G=	GRCh37
NC_000002.10:g.73570638G=	NCBI36
NG_011690.1:g.109251G= , LRG_741:g.109251G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7663G=	ENSP00000507671.1:p.Glu2555=
ENST00000682801.1:c.7663G=	ENSP00000507862.1:p.Glu2555=
ENST00000682859.1:c.7663G=	ENSP00000508222.1:p.Glu2555=
ENST00000683791.1:c.1055G=
ENST00000684460.1:c.5115G=
ENST00000684548.1:c.7663G=	ENSP00000507421.1:p.Glu2555=
ENST00000684590.1:c.2110G=	ENSP00000507376.1:p.Glu704=
ENST00000684656.1:c.5115G=
ENST00000613296.6:c.8044G= MANE Select	ENSP00000482968.1:p.Glu2682=
ENST00000651434.1:c.896-29772G=
ENST00000423048.5:c.2875G=	ENSP00000399833.1:p.Glu959=
ENST00000484298.5:c.7918G=	ENSP00000478155.1:p.Glu2640=
ENST00000613296.4:c.8044G=	ENSP00000482968.1:p.Glu2682=
ENST00000614410.4:c.8044G=	ENSP00000479094.1:p.Glu2682=
ENST00000620466.4:n.1847G=
NM_015120.4:c.8047G= , LRG_741t1:c.8047G=	NP_055935.4:p.Glu2683=
NM_001378454.1:c.8044G= MANE Select	NP_001365383.1:p.Glu2682=