Canonical Allele Identifier: CA1261034035

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601396G= , CM000664.2:g.73601396G=	GRCh38
NC_000002.11:g.73828523G= , CM000664.1:g.73828523G=	GRCh37
NC_000002.10:g.73682031G=	NCBI36
NG_011690.1:g.220644G= , LRG_741:g.220644G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11693G=	ENSP00000507671.1:p.Gly3898=
ENST00000682801.1:c.11167-789G=	ENSP00000507862.1:n.11167-789G=
ENST00000682859.1:c.11693G=	ENSP00000508222.1:p.Gly3898=
ENST00000683791.1:c.4779G=
ENST00000684460.1:c.8974G=
ENST00000684548.1:c.11693G=	ENSP00000507421.1:p.Gly3898=
ENST00000684590.1:c.6140G=	ENSP00000507376.1:p.Gly2047=
ENST00000684656.1:c.9158G=
ENST00000613296.6:c.12074G= MANE Select	ENSP00000482968.1:p.Gly4025=
ENST00000651057.1:c.2228G=	ENSP00000498504.1:p.Gly743=
ENST00000651434.1:c.3430G=
ENST00000651750.1:c.1260+515G=
ENST00000652487.1:c.3245G=
ENST00000464408.3:n.249G=
ENST00000484298.5:c.11948G=	ENSP00000478155.1:p.Gly3983=
ENST00000613296.4:c.12074G=	ENSP00000482968.1:p.Gly4025=
ENST00000620466.4:n.5877G=
NM_015120.4:c.12077G= , LRG_741t1:c.12077G=	NP_055935.4:p.Gly4026=
NM_001378454.1:c.12074G= MANE Select	NP_001365383.1:p.Gly4025=