Canonical Allele Identifier: CA1261033644

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601205G= , CM000664.2:g.73601205G=	GRCh38
NC_000002.11:g.73828332G= , CM000664.1:g.73828332G=	GRCh37
NC_000002.10:g.73681840G=	NCBI36
NG_011690.1:g.220453G= , LRG_741:g.220453G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11502G=	ENSP00000507671.1:p.Trp3834=
ENST00000682801.1:c.11167-980G=	ENSP00000507862.1:n.11167-980G=
ENST00000682859.1:c.11502G=	ENSP00000508222.1:p.Trp3834=
ENST00000683791.1:c.4588G=
ENST00000684460.1:c.8783G=
ENST00000684548.1:c.11502G=	ENSP00000507421.1:p.Trp3834=
ENST00000684590.1:c.5949G=	ENSP00000507376.1:p.Trp1983=
ENST00000684656.1:c.8967G=
ENST00000613296.6:c.11883G= MANE Select	ENSP00000482968.1:p.Trp3961=
ENST00000651057.1:c.2037G=	ENSP00000498504.1:p.Trp679=
ENST00000651434.1:c.3239G=
ENST00000651750.1:c.1260+324G=
ENST00000652487.1:c.3054G=
ENST00000464408.3:n.58G=
ENST00000484298.5:c.11757G=	ENSP00000478155.1:p.Trp3919=
ENST00000613296.4:c.11883G=	ENSP00000482968.1:p.Trp3961=
ENST00000620466.4:n.5686G=
NM_015120.4:c.11886G= , LRG_741t1:c.11886G=	NP_055935.4:p.Trp3962=
NM_001378454.1:c.11883G= MANE Select	NP_001365383.1:p.Trp3961=