Canonical Allele Identifier: CA1261033999

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601379C= , CM000664.2:g.73601379C=	GRCh38
NC_000002.11:g.73828506C= , CM000664.1:g.73828506C=	GRCh37
NC_000002.10:g.73682014C=	NCBI36
NG_011690.1:g.220627C= , LRG_741:g.220627C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11676C=	ENSP00000507671.1:p.Gly3892=
ENST00000682801.1:c.11167-806C=	ENSP00000507862.1:n.11167-806C=
ENST00000682859.1:c.11676C=	ENSP00000508222.1:p.Gly3892=
ENST00000683791.1:c.4762C=
ENST00000684460.1:c.8957C=
ENST00000684548.1:c.11676C=	ENSP00000507421.1:p.Gly3892=
ENST00000684590.1:c.6123C=	ENSP00000507376.1:p.Gly2041=
ENST00000684656.1:c.9141C=
ENST00000613296.6:c.12057C= MANE Select	ENSP00000482968.1:p.Gly4019=
ENST00000651057.1:c.2211C=	ENSP00000498504.1:p.Gly737=
ENST00000651434.1:c.3413C=
ENST00000651750.1:c.1260+498C=
ENST00000652487.1:c.3228C=
ENST00000464408.3:n.232C=
ENST00000484298.5:c.11931C=	ENSP00000478155.1:p.Gly3977=
ENST00000613296.4:c.12057C=	ENSP00000482968.1:p.Gly4019=
ENST00000620466.4:n.5860C=
NM_015120.4:c.12060C= , LRG_741t1:c.12060C=	NP_055935.4:p.Gly4020=
NM_001378454.1:c.12057C= MANE Select	NP_001365383.1:p.Gly4019=