Canonical Allele Identifier: CA1261021917

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572782T= , CM000664.2:g.73572782T=	GRCh38
NC_000002.11:g.73799909T= , CM000664.1:g.73799909T=	GRCh37
NC_000002.10:g.73653417T=	NCBI36
NG_011690.1:g.192030T= , LRG_741:g.192030T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10524T=	ENSP00000507671.1:p.Ile3508=
ENST00000682801.1:c.10524T=	ENSP00000507862.1:p.Ile3508=
ENST00000682859.1:c.10524T=	ENSP00000508222.1:p.Ile3508=
ENST00000683791.1:c.3610T=
ENST00000684460.1:c.7805T=
ENST00000684548.1:c.10524T=	ENSP00000507421.1:p.Ile3508=
ENST00000684590.1:c.4971T=	ENSP00000507376.1:p.Ile1657=
ENST00000684656.1:c.7850T=
ENST00000613296.6:c.10905T= MANE Select	ENSP00000482968.1:p.Ile3635=
ENST00000651057.1:c.1059T=	ENSP00000498504.1:p.Ile353=
ENST00000651434.1:c.2261T=
ENST00000651750.1:c.293T=
ENST00000652487.1:c.2002T=
ENST00000423048.5:c.4396T=	ENSP00000399833.1:n.4396T=
ENST00000484298.5:c.10779T=	ENSP00000478155.1:p.Ile3593=
ENST00000613296.4:c.10905T=	ENSP00000482968.1:p.Ile3635=
ENST00000614410.4:c.10905T=	ENSP00000479094.1:p.Ile3635=
ENST00000620466.4:n.4708T=
NM_015120.4:c.10908T= , LRG_741t1:c.10908T=	NP_055935.4:p.Ile3636=
NM_001378454.1:c.10905T= MANE Select	NP_001365383.1:p.Ile3635=