Canonical Allele Identifier: CA1261021043

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572400G= , CM000664.2:g.73572400G=	GRCh38
NC_000002.11:g.73799527G= , CM000664.1:g.73799527G=	GRCh37
NC_000002.10:g.73653035G=	NCBI36
NG_011690.1:g.191648G= , LRG_741:g.191648G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10142G=	ENSP00000507671.1:p.Arg3381=
ENST00000682801.1:c.10142G=	ENSP00000507862.1:p.Arg3381=
ENST00000682859.1:c.10142G=	ENSP00000508222.1:p.Arg3381=
ENST00000683791.1:c.3228G=
ENST00000684460.1:c.7423G=
ENST00000684548.1:c.10142G=	ENSP00000507421.1:p.Arg3381=
ENST00000684590.1:c.4589G=	ENSP00000507376.1:p.Arg1530=
ENST00000684656.1:c.7468G=
ENST00000613296.6:c.10523G= MANE Select	ENSP00000482968.1:p.Arg3508=
ENST00000651057.1:c.677G=	ENSP00000498504.1:p.Arg226=
ENST00000651434.1:c.1879G=
ENST00000652487.1:c.1620G=
ENST00000423048.5:c.4014G=	ENSP00000399833.1:n.4014G=
ENST00000484298.5:c.10397G=	ENSP00000478155.1:p.Arg3466=
ENST00000613296.4:c.10523G=	ENSP00000482968.1:p.Arg3508=
ENST00000614410.4:c.10523G=	ENSP00000479094.1:p.Arg3508=
ENST00000620466.4:n.4326G=
NM_015120.4:c.10526G= , LRG_741t1:c.10526G=	NP_055935.4:p.Arg3509=
NM_001378454.1:c.10523G= MANE Select	NP_001365383.1:p.Arg3508=