Canonical Allele Identifier: CA1261033681

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601227G= , CM000664.2:g.73601227G=	GRCh38
NC_000002.11:g.73828354G= , CM000664.1:g.73828354G=	GRCh37
NC_000002.10:g.73681862G=	NCBI36
NG_011690.1:g.220475G= , LRG_741:g.220475G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11524G=	ENSP00000507671.1:p.Glu3842=
ENST00000682801.1:c.11167-958G=	ENSP00000507862.1:n.11167-958G=
ENST00000682859.1:c.11524G=	ENSP00000508222.1:p.Glu3842=
ENST00000683791.1:c.4610G=
ENST00000684460.1:c.8805G=
ENST00000684548.1:c.11524G=	ENSP00000507421.1:p.Glu3842=
ENST00000684590.1:c.5971G=	ENSP00000507376.1:p.Glu1991=
ENST00000684656.1:c.8989G=
ENST00000613296.6:c.11905G= MANE Select	ENSP00000482968.1:p.Glu3969=
ENST00000651057.1:c.2059G=	ENSP00000498504.1:p.Glu687=
ENST00000651434.1:c.3261G=
ENST00000651750.1:c.1260+346G=
ENST00000652487.1:c.3076G=
ENST00000464408.3:n.80G=
ENST00000484298.5:c.11779G=	ENSP00000478155.1:p.Glu3927=
ENST00000613296.4:c.11905G=	ENSP00000482968.1:p.Glu3969=
ENST00000620466.4:n.5708G=
NM_015120.4:c.11908G= , LRG_741t1:c.11908G=	NP_055935.4:p.Glu3970=
NM_001378454.1:c.11905G= MANE Select	NP_001365383.1:p.Glu3969=