Canonical Allele Identifier: CA1261021248

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572519C= , CM000664.2:g.73572519C=	GRCh38
NC_000002.11:g.73799646C= , CM000664.1:g.73799646C=	GRCh37
NC_000002.10:g.73653154C=	NCBI36
NG_011690.1:g.191767C= , LRG_741:g.191767C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10261C=	ENSP00000507671.1:p.Leu3421=
ENST00000682801.1:c.10261C=	ENSP00000507862.1:p.Leu3421=
ENST00000682859.1:c.10261C=	ENSP00000508222.1:p.Leu3421=
ENST00000683791.1:c.3347C=
ENST00000684460.1:c.7542C=
ENST00000684548.1:c.10261C=	ENSP00000507421.1:p.Leu3421=
ENST00000684590.1:c.4708C=	ENSP00000507376.1:p.Leu1570=
ENST00000684656.1:c.7587C=
ENST00000613296.6:c.10642C= MANE Select	ENSP00000482968.1:p.Leu3548=
ENST00000651057.1:c.796C=	ENSP00000498504.1:p.Leu266=
ENST00000651434.1:c.1998C=
ENST00000651750.1:c.30C=
ENST00000652487.1:c.1739C=
ENST00000423048.5:c.4133C=	ENSP00000399833.1:n.4133C=
ENST00000484298.5:c.10516C=	ENSP00000478155.1:p.Leu3506=
ENST00000613296.4:c.10642C=	ENSP00000482968.1:p.Leu3548=
ENST00000614410.4:c.10642C=	ENSP00000479094.1:p.Leu3548=
ENST00000620466.4:n.4445C=
NM_015120.4:c.10645C= , LRG_741t1:c.10645C=	NP_055935.4:p.Leu3549=
NM_001378454.1:c.10642C= MANE Select	NP_001365383.1:p.Leu3548=