Canonical Allele Identifier: CA1261033866

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601319G= , CM000664.2:g.73601319G=	GRCh38
NC_000002.11:g.73828446G= , CM000664.1:g.73828446G=	GRCh37
NC_000002.10:g.73681954G=	NCBI36
NG_011690.1:g.220567G= , LRG_741:g.220567G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11616G=	ENSP00000507671.1:p.Glu3872=
ENST00000682801.1:c.11167-866G=	ENSP00000507862.1:n.11167-866G=
ENST00000682859.1:c.11616G=	ENSP00000508222.1:p.Glu3872=
ENST00000683791.1:c.4702G=
ENST00000684460.1:c.8897G=
ENST00000684548.1:c.11616G=	ENSP00000507421.1:p.Glu3872=
ENST00000684590.1:c.6063G=	ENSP00000507376.1:p.Glu2021=
ENST00000684656.1:c.9081G=
ENST00000613296.6:c.11997G= MANE Select	ENSP00000482968.1:p.Glu3999=
ENST00000651057.1:c.2151G=	ENSP00000498504.1:p.Glu717=
ENST00000651434.1:c.3353G=
ENST00000651750.1:c.1260+438G=
ENST00000652487.1:c.3168G=
ENST00000464408.3:n.172G=
ENST00000484298.5:c.11871G=	ENSP00000478155.1:p.Glu3957=
ENST00000613296.4:c.11997G=	ENSP00000482968.1:p.Glu3999=
ENST00000620466.4:n.5800G=
NM_015120.4:c.12000G= , LRG_741t1:c.12000G=	NP_055935.4:p.Glu4000=
NM_001378454.1:c.11997G= MANE Select	NP_001365383.1:p.Glu3999=