Canonical Allele Identifier: CA1261034016

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601390A= , CM000664.2:g.73601390A=	GRCh38
NC_000002.11:g.73828517A= , CM000664.1:g.73828517A=	GRCh37
NC_000002.10:g.73682025A=	NCBI36
NG_011690.1:g.220638A= , LRG_741:g.220638A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11687A=	ENSP00000507671.1:p.Glu3896=
ENST00000682801.1:c.11167-795A=	ENSP00000507862.1:n.11167-795A=
ENST00000682859.1:c.11687A=	ENSP00000508222.1:p.Glu3896=
ENST00000683791.1:c.4773A=
ENST00000684460.1:c.8968A=
ENST00000684548.1:c.11687A=	ENSP00000507421.1:p.Glu3896=
ENST00000684590.1:c.6134A=	ENSP00000507376.1:p.Glu2045=
ENST00000684656.1:c.9152A=
ENST00000613296.6:c.12068A= MANE Select	ENSP00000482968.1:p.Glu4023=
ENST00000651057.1:c.2222A=	ENSP00000498504.1:p.Glu741=
ENST00000651434.1:c.3424A=
ENST00000651750.1:c.1260+509A=
ENST00000652487.1:c.3239A=
ENST00000464408.3:n.243A=
ENST00000484298.5:c.11942A=	ENSP00000478155.1:p.Glu3981=
ENST00000613296.4:c.12068A=	ENSP00000482968.1:p.Glu4023=
ENST00000620466.4:n.5871A=
NM_015120.4:c.12071A= , LRG_741t1:c.12071A=	NP_055935.4:p.Glu4024=
NM_001378454.1:c.12068A= MANE Select	NP_001365383.1:p.Glu4023=