Canonical Allele Identifier: CA1261021207

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572449A= , CM000664.2:g.73572449A=	GRCh38
NC_000002.11:g.73799576A= , CM000664.1:g.73799576A=	GRCh37
NC_000002.10:g.73653084A=	NCBI36
NG_011690.1:g.191697A= , LRG_741:g.191697A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10191A=	ENSP00000507671.1:p.Glu3397=
ENST00000682801.1:c.10191A=	ENSP00000507862.1:p.Glu3397=
ENST00000682859.1:c.10191A=	ENSP00000508222.1:p.Glu3397=
ENST00000683791.1:c.3277A=
ENST00000684460.1:c.7472A=
ENST00000684548.1:c.10191A=	ENSP00000507421.1:p.Glu3397=
ENST00000684590.1:c.4638A=	ENSP00000507376.1:p.Glu1546=
ENST00000684656.1:c.7517A=
ENST00000613296.6:c.10572A= MANE Select	ENSP00000482968.1:p.Glu3524=
ENST00000651057.1:c.726A=	ENSP00000498504.1:p.Glu242=
ENST00000651434.1:c.1928A=
ENST00000652487.1:c.1669A=
ENST00000423048.5:c.4063A=	ENSP00000399833.1:n.4063A=
ENST00000484298.5:c.10446A=	ENSP00000478155.1:p.Glu3482=
ENST00000613296.4:c.10572A=	ENSP00000482968.1:p.Glu3524=
ENST00000614410.4:c.10572A=	ENSP00000479094.1:p.Glu3524=
ENST00000620466.4:n.4375A=
NM_015120.4:c.10575A= , LRG_741t1:c.10575A=	NP_055935.4:p.Glu3525=
NM_001378454.1:c.10572A= MANE Select	NP_001365383.1:p.Glu3524=