Canonical Allele Identifier: CA1261022131

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572910G= , CM000664.2:g.73572910G=	GRCh38
NC_000002.11:g.73800037G= , CM000664.1:g.73800037G=	GRCh37
NC_000002.10:g.73653545G=	NCBI36
NG_011690.1:g.192158G= , LRG_741:g.192158G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10652G=	ENSP00000507671.1:p.Arg3551=
ENST00000682801.1:c.10652G=	ENSP00000507862.1:p.Arg3551=
ENST00000682859.1:c.10652G=	ENSP00000508222.1:p.Arg3551=
ENST00000683791.1:c.3738G=
ENST00000684460.1:c.7933G=
ENST00000684548.1:c.10652G=	ENSP00000507421.1:p.Arg3551=
ENST00000684590.1:c.5099G=	ENSP00000507376.1:p.Arg1700=
ENST00000684656.1:c.7978G=
ENST00000613296.6:c.11033G= MANE Select	ENSP00000482968.1:p.Arg3678=
ENST00000651057.1:c.1187G=	ENSP00000498504.1:p.Arg396=
ENST00000651434.1:c.2389G=
ENST00000651750.1:c.421G=
ENST00000652487.1:c.2130G=
ENST00000423048.5:c.4524G=	ENSP00000399833.1:n.4524G=
ENST00000484298.5:c.10907G=	ENSP00000478155.1:p.Arg3636=
ENST00000613296.4:c.11033G=	ENSP00000482968.1:p.Arg3678=
ENST00000614410.4:c.11033G=	ENSP00000479094.1:p.Arg3678=
ENST00000620466.4:n.4836G=
NM_015120.4:c.11036G= , LRG_741t1:c.11036G=	NP_055935.4:p.Arg3679=
NM_001378454.1:c.11033G= MANE Select	NP_001365383.1:p.Arg3678=