Canonical Allele Identifier: CA1261021017

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572378T= , CM000664.2:g.73572378T=	GRCh38
NC_000002.11:g.73799505T= , CM000664.1:g.73799505T=	GRCh37
NC_000002.10:g.73653013T=	NCBI36
NG_011690.1:g.191626T= , LRG_741:g.191626T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10120T=	ENSP00000507671.1:p.Leu3374=
ENST00000682801.1:c.10120T=	ENSP00000507862.1:p.Leu3374=
ENST00000682859.1:c.10120T=	ENSP00000508222.1:p.Leu3374=
ENST00000683791.1:c.3206T=
ENST00000684460.1:c.7401T=
ENST00000684548.1:c.10120T=	ENSP00000507421.1:p.Leu3374=
ENST00000684590.1:c.4567T=	ENSP00000507376.1:p.Leu1523=
ENST00000684656.1:c.7446T=
ENST00000613296.6:c.10501T= MANE Select	ENSP00000482968.1:p.Leu3501=
ENST00000651057.1:c.655T=	ENSP00000498504.1:p.Leu219=
ENST00000651434.1:c.1857T=
ENST00000652487.1:c.1598T=
ENST00000423048.5:c.3992T=	ENSP00000399833.1:n.3992T=
ENST00000484298.5:c.10375T=	ENSP00000478155.1:p.Leu3459=
ENST00000613296.4:c.10501T=	ENSP00000482968.1:p.Leu3501=
ENST00000614410.4:c.10501T=	ENSP00000479094.1:p.Leu3501=
ENST00000620466.4:n.4304T=
NM_015120.4:c.10504T= , LRG_741t1:c.10504T=	NP_055935.4:p.Leu3502=
NM_001378454.1:c.10501T= MANE Select	NP_001365383.1:p.Leu3501=