Canonical Allele Identifier: CA1261034081

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601408T= , CM000664.2:g.73601408T=	GRCh38
NC_000002.11:g.73828535T= , CM000664.1:g.73828535T=	GRCh37
NC_000002.10:g.73682043T=	NCBI36
NG_011690.1:g.220656T= , LRG_741:g.220656T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11705T=	ENSP00000507671.1:p.Leu3902=
ENST00000682801.1:c.11167-777T=	ENSP00000507862.1:n.11167-777T=
ENST00000682859.1:c.11705T=	ENSP00000508222.1:p.Leu3902=
ENST00000683791.1:c.4791T=
ENST00000684460.1:c.8986T=
ENST00000684548.1:c.11705T=	ENSP00000507421.1:p.Leu3902=
ENST00000684590.1:c.6152T=	ENSP00000507376.1:p.Leu2051=
ENST00000684656.1:c.9170T=
ENST00000613296.6:c.12086T= MANE Select	ENSP00000482968.1:p.Leu4029=
ENST00000651057.1:c.2240T=	ENSP00000498504.1:p.Leu747=
ENST00000651434.1:c.3442T=
ENST00000651750.1:c.1260+527T=
ENST00000652487.1:c.3257T=
ENST00000464408.3:n.261T=
ENST00000484298.5:c.11960T=	ENSP00000478155.1:p.Leu3987=
ENST00000613296.4:c.12086T=	ENSP00000482968.1:p.Leu4029=
ENST00000620466.4:n.5889T=
NM_015120.4:c.12089T= , LRG_741t1:c.12089T=	NP_055935.4:p.Leu4030=
NM_001378454.1:c.12086T= MANE Select	NP_001365383.1:p.Leu4029=