Canonical Allele Identifier: CA1261020985

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572364T= , CM000664.2:g.73572364T=	GRCh38
NC_000002.11:g.73799491T= , CM000664.1:g.73799491T=	GRCh37
NC_000002.10:g.73652999T=	NCBI36
NG_011690.1:g.191612T= , LRG_741:g.191612T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10106T=	ENSP00000507671.1:p.Ile3369=
ENST00000682801.1:c.10106T=	ENSP00000507862.1:p.Ile3369=
ENST00000682859.1:c.10106T=	ENSP00000508222.1:p.Ile3369=
ENST00000683791.1:c.3192T=
ENST00000684460.1:c.7387T=
ENST00000684548.1:c.10106T=	ENSP00000507421.1:p.Ile3369=
ENST00000684590.1:c.4553T=	ENSP00000507376.1:p.Ile1518=
ENST00000684656.1:c.7432T=
ENST00000613296.6:c.10487T= MANE Select	ENSP00000482968.1:p.Ile3496=
ENST00000651057.1:c.641T=	ENSP00000498504.1:p.Ile214=
ENST00000651434.1:c.1843T=
ENST00000652487.1:c.1584T=
ENST00000423048.5:c.3978T=	ENSP00000399833.1:n.3978T=
ENST00000484298.5:c.10361T=	ENSP00000478155.1:p.Ile3454=
ENST00000613296.4:c.10487T=	ENSP00000482968.1:p.Ile3496=
ENST00000614410.4:c.10487T=	ENSP00000479094.1:p.Ile3496=
ENST00000620466.4:n.4290T=
NM_015120.4:c.10490T= , LRG_741t1:c.10490T=	NP_055935.4:p.Ile3497=
NM_001378454.1:c.10487T= MANE Select	NP_001365383.1:p.Ile3496=