Canonical Allele Identifier: CA1261034051

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601401G= , CM000664.2:g.73601401G=	GRCh38
NC_000002.11:g.73828528G= , CM000664.1:g.73828528G=	GRCh37
NC_000002.10:g.73682036G=	NCBI36
NG_011690.1:g.220649G= , LRG_741:g.220649G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11698G=	ENSP00000507671.1:p.Asp3900=
ENST00000682801.1:c.11167-784G=	ENSP00000507862.1:n.11167-784G=
ENST00000682859.1:c.11698G=	ENSP00000508222.1:p.Asp3900=
ENST00000683791.1:c.4784G=
ENST00000684460.1:c.8979G=
ENST00000684548.1:c.11698G=	ENSP00000507421.1:p.Asp3900=
ENST00000684590.1:c.6145G=	ENSP00000507376.1:p.Asp2049=
ENST00000684656.1:c.9163G=
ENST00000613296.6:c.12079G= MANE Select	ENSP00000482968.1:p.Asp4027=
ENST00000651057.1:c.2233G=	ENSP00000498504.1:p.Asp745=
ENST00000651434.1:c.3435G=
ENST00000651750.1:c.1260+520G=
ENST00000652487.1:c.3250G=
ENST00000464408.3:n.254G=
ENST00000484298.5:c.11953G=	ENSP00000478155.1:p.Asp3985=
ENST00000613296.4:c.12079G=	ENSP00000482968.1:p.Asp4027=
ENST00000620466.4:n.5882G=
NM_015120.4:c.12082G= , LRG_741t1:c.12082G=	NP_055935.4:p.Asp4028=
NM_001378454.1:c.12079G= MANE Select	NP_001365383.1:p.Asp4027=