Canonical Allele Identifier: CA1261020856

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572306T= , CM000664.2:g.73572306T=	GRCh38
NC_000002.11:g.73799433T= , CM000664.1:g.73799433T=	GRCh37
NC_000002.10:g.73652941T=	NCBI36
NG_011690.1:g.191554T= , LRG_741:g.191554T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10048T=	ENSP00000507671.1:p.Phe3350=
ENST00000682801.1:c.10048T=	ENSP00000507862.1:p.Phe3350=
ENST00000682859.1:c.10048T=	ENSP00000508222.1:p.Phe3350=
ENST00000683791.1:c.3134T=
ENST00000684460.1:c.7329T=
ENST00000684548.1:c.10048T=	ENSP00000507421.1:p.Phe3350=
ENST00000684590.1:c.4495T=	ENSP00000507376.1:p.Phe1499=
ENST00000684656.1:c.7374T=
ENST00000613296.6:c.10429T= MANE Select	ENSP00000482968.1:p.Phe3477=
ENST00000651057.1:c.583T=	ENSP00000498504.1:p.Phe195=
ENST00000651434.1:c.1785T=
ENST00000652487.1:c.1526T=
ENST00000423048.5:c.3920T=	ENSP00000399833.1:n.3920T=
ENST00000484298.5:c.10303T=	ENSP00000478155.1:p.Phe3435=
ENST00000613296.4:c.10429T=	ENSP00000482968.1:p.Phe3477=
ENST00000614410.4:c.10429T=	ENSP00000479094.1:p.Phe3477=
ENST00000620466.4:n.4232T=
NM_015120.4:c.10432T= , LRG_741t1:c.10432T=	NP_055935.4:p.Phe3478=
NM_001378454.1:c.10429T= MANE Select	NP_001365383.1:p.Phe3477=