Canonical Allele Identifier: CA1261021740

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572724A= , CM000664.2:g.73572724A=	GRCh38
NC_000002.11:g.73799851A= , CM000664.1:g.73799851A=	GRCh37
NC_000002.10:g.73653359A=	NCBI36
NG_011690.1:g.191972A= , LRG_741:g.191972A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10466A=	ENSP00000507671.1:p.Glu3489=
ENST00000682801.1:c.10466A=	ENSP00000507862.1:p.Glu3489=
ENST00000682859.1:c.10466A=	ENSP00000508222.1:p.Glu3489=
ENST00000683791.1:c.3552A=
ENST00000684460.1:c.7747A=
ENST00000684548.1:c.10466A=	ENSP00000507421.1:p.Glu3489=
ENST00000684590.1:c.4913A=	ENSP00000507376.1:p.Glu1638=
ENST00000684656.1:c.7792A=
ENST00000613296.6:c.10847A= MANE Select	ENSP00000482968.1:p.Glu3616=
ENST00000651057.1:c.1001A=	ENSP00000498504.1:p.Glu334=
ENST00000651434.1:c.2203A=
ENST00000651750.1:c.235A=
ENST00000652487.1:c.1944A=
ENST00000423048.5:c.4338A=	ENSP00000399833.1:n.4338A=
ENST00000484298.5:c.10721A=	ENSP00000478155.1:p.Glu3574=
ENST00000613296.4:c.10847A=	ENSP00000482968.1:p.Glu3616=
ENST00000614410.4:c.10847A=	ENSP00000479094.1:p.Glu3616=
ENST00000620466.4:n.4650A=
NM_015120.4:c.10850A= , LRG_741t1:c.10850A=	NP_055935.4:p.Glu3617=
NM_001378454.1:c.10847A= MANE Select	NP_001365383.1:p.Glu3616=