Canonical Allele Identifier: CA1261034126

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601423G= , CM000664.2:g.73601423G=	GRCh38
NC_000002.11:g.73828550G= , CM000664.1:g.73828550G=	GRCh37
NC_000002.10:g.73682058G=	NCBI36
NG_011690.1:g.220671G= , LRG_741:g.220671G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11720G=	ENSP00000507671.1:p.Arg3907=
ENST00000682801.1:c.11167-762G=	ENSP00000507862.1:n.11167-762G=
ENST00000682859.1:c.11720G=	ENSP00000508222.1:p.Arg3907=
ENST00000683791.1:c.4806G=
ENST00000684460.1:c.9001G=
ENST00000684548.1:c.11720G=	ENSP00000507421.1:p.Arg3907=
ENST00000684590.1:c.6167G=	ENSP00000507376.1:p.Arg2056=
ENST00000684656.1:c.9185G=
ENST00000613296.6:c.12101G= MANE Select	ENSP00000482968.1:p.Arg4034=
ENST00000651057.1:c.2255G=	ENSP00000498504.1:p.Arg752=
ENST00000651434.1:c.3457G=
ENST00000651750.1:c.1260+542G=
ENST00000652487.1:c.3272G=
ENST00000464408.3:n.276G=
ENST00000484298.5:c.11975G=	ENSP00000478155.1:p.Arg3992=
ENST00000613296.4:c.12101G=	ENSP00000482968.1:p.Arg4034=
ENST00000620466.4:n.5904G=
NM_015120.4:c.12104G= , LRG_741t1:c.12104G=	NP_055935.4:p.Arg4035=
NM_001378454.1:c.12101G= MANE Select	NP_001365383.1:p.Arg4034=