Canonical Allele Identifier: CA1261021896

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572768C= , CM000664.2:g.73572768C=	GRCh38
NC_000002.11:g.73799895C= , CM000664.1:g.73799895C=	GRCh37
NC_000002.10:g.73653403C=	NCBI36
NG_011690.1:g.192016C= , LRG_741:g.192016C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10510C=	ENSP00000507671.1:p.Arg3504=
ENST00000682801.1:c.10510C=	ENSP00000507862.1:p.Arg3504=
ENST00000682859.1:c.10510C=	ENSP00000508222.1:p.Arg3504=
ENST00000683791.1:c.3596C=
ENST00000684460.1:c.7791C=
ENST00000684548.1:c.10510C=	ENSP00000507421.1:p.Arg3504=
ENST00000684590.1:c.4957C=	ENSP00000507376.1:p.Arg1653=
ENST00000684656.1:c.7836C=
ENST00000613296.6:c.10891C= MANE Select	ENSP00000482968.1:p.Arg3631=
ENST00000651057.1:c.1045C=	ENSP00000498504.1:p.Arg349=
ENST00000651434.1:c.2247C=
ENST00000651750.1:c.279C=
ENST00000652487.1:c.1988C=
ENST00000423048.5:c.4382C=	ENSP00000399833.1:n.4382C=
ENST00000484298.5:c.10765C=	ENSP00000478155.1:p.Arg3589=
ENST00000613296.4:c.10891C=	ENSP00000482968.1:p.Arg3631=
ENST00000614410.4:c.10891C=	ENSP00000479094.1:p.Arg3631=
ENST00000620466.4:n.4694C=
NM_015120.4:c.10894C= , LRG_741t1:c.10894C=	NP_055935.4:p.Arg3632=
NM_001378454.1:c.10891C= MANE Select	NP_001365383.1:p.Arg3631=