Canonical Allele Identifier: CA1261020873

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572317A= , CM000664.2:g.73572317A=	GRCh38
NC_000002.11:g.73799444A= , CM000664.1:g.73799444A=	GRCh37
NC_000002.10:g.73652952A=	NCBI36
NG_011690.1:g.191565A= , LRG_741:g.191565A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10059A=	ENSP00000507671.1:p.Ala3353=
ENST00000682801.1:c.10059A=	ENSP00000507862.1:p.Ala3353=
ENST00000682859.1:c.10059A=	ENSP00000508222.1:p.Ala3353=
ENST00000683791.1:c.3145A=
ENST00000684460.1:c.7340A=
ENST00000684548.1:c.10059A=	ENSP00000507421.1:p.Ala3353=
ENST00000684590.1:c.4506A=	ENSP00000507376.1:p.Ala1502=
ENST00000684656.1:c.7385A=
ENST00000613296.6:c.10440A= MANE Select	ENSP00000482968.1:p.Ala3480=
ENST00000651057.1:c.594A=	ENSP00000498504.1:p.Ala198=
ENST00000651434.1:c.1796A=
ENST00000652487.1:c.1537A=
ENST00000423048.5:c.3931A=	ENSP00000399833.1:n.3931A=
ENST00000484298.5:c.10314A=	ENSP00000478155.1:p.Ala3438=
ENST00000613296.4:c.10440A=	ENSP00000482968.1:p.Ala3480=
ENST00000614410.4:c.10440A=	ENSP00000479094.1:p.Ala3480=
ENST00000620466.4:n.4243A=
NM_015120.4:c.10443A= , LRG_741t1:c.10443A=	NP_055935.4:p.Ala3481=
NM_001378454.1:c.10440A= MANE Select	NP_001365383.1:p.Ala3480=