Canonical Allele Identifier: CA1260958958

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450194G= , CM000664.2:g.73450194G=	GRCh38
NC_000002.11:g.73677321G= , CM000664.1:g.73677321G=	GRCh37
NC_000002.10:g.73530829G=	NCBI36
NG_011690.1:g.69442G= , LRG_741:g.69442G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3286G=	ENSP00000507671.1:p.Gly1096=
ENST00000682801.1:c.3286G=	ENSP00000507862.1:p.Gly1096=
ENST00000682859.1:c.3286G=	ENSP00000508222.1:p.Gly1096=
ENST00000683791.1:c.685+17903G=
ENST00000684460.1:c.738G=
ENST00000684548.1:c.3286G=	ENSP00000507421.1:p.Gly1096=
ENST00000684656.1:c.738G=
ENST00000613296.6:c.3667G= MANE Select	ENSP00000482968.1:p.Gly1223=
ENST00000484298.5:c.3541G=	ENSP00000478155.1:p.Gly1181=
ENST00000613296.4:c.3667G=	ENSP00000482968.1:p.Gly1223=
ENST00000614410.4:c.3667G=	ENSP00000479094.1:p.Gly1223=
NM_015120.4:c.3670G= , LRG_741t1:c.3670G=	NP_055935.4:p.Gly1224=
NM_001378454.1:c.3667G= MANE Select	NP_001365383.1:p.Gly1223=