Canonical Allele Identifier: CA1261022060

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572866G= , CM000664.2:g.73572866G=	GRCh38
NC_000002.11:g.73799993G= , CM000664.1:g.73799993G=	GRCh37
NC_000002.10:g.73653501G=	NCBI36
NG_011690.1:g.192114G= , LRG_741:g.192114G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10608G=	ENSP00000507671.1:p.Trp3536=
ENST00000682801.1:c.10608G=	ENSP00000507862.1:p.Trp3536=
ENST00000682859.1:c.10608G=	ENSP00000508222.1:p.Trp3536=
ENST00000683791.1:c.3694G=
ENST00000684460.1:c.7889G=
ENST00000684548.1:c.10608G=	ENSP00000507421.1:p.Trp3536=
ENST00000684590.1:c.5055G=	ENSP00000507376.1:p.Trp1685=
ENST00000684656.1:c.7934G=
ENST00000613296.6:c.10989G= MANE Select	ENSP00000482968.1:p.Trp3663=
ENST00000651057.1:c.1143G=	ENSP00000498504.1:p.Trp381=
ENST00000651434.1:c.2345G=
ENST00000651750.1:c.377G=
ENST00000652487.1:c.2086G=
ENST00000423048.5:c.4480G=	ENSP00000399833.1:n.4480G=
ENST00000484298.5:c.10863G=	ENSP00000478155.1:p.Trp3621=
ENST00000613296.4:c.10989G=	ENSP00000482968.1:p.Trp3663=
ENST00000614410.4:c.10989G=	ENSP00000479094.1:p.Trp3663=
ENST00000620466.4:n.4792G=
NM_015120.4:c.10992G= , LRG_741t1:c.10992G=	NP_055935.4:p.Trp3664=
NM_001378454.1:c.10989G= MANE Select	NP_001365383.1:p.Trp3663=