Canonical Allele Identifier: CA1261021893

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572763T= , CM000664.2:g.73572763T=	GRCh38
NC_000002.11:g.73799890T= , CM000664.1:g.73799890T=	GRCh37
NC_000002.10:g.73653398T=	NCBI36
NG_011690.1:g.192011T= , LRG_741:g.192011T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10505T=	ENSP00000507671.1:p.Leu3502=
ENST00000682801.1:c.10505T=	ENSP00000507862.1:p.Leu3502=
ENST00000682859.1:c.10505T=	ENSP00000508222.1:p.Leu3502=
ENST00000683791.1:c.3591T=
ENST00000684460.1:c.7786T=
ENST00000684548.1:c.10505T=	ENSP00000507421.1:p.Leu3502=
ENST00000684590.1:c.4952T=	ENSP00000507376.1:p.Leu1651=
ENST00000684656.1:c.7831T=
ENST00000613296.6:c.10886T= MANE Select	ENSP00000482968.1:p.Leu3629=
ENST00000651057.1:c.1040T=	ENSP00000498504.1:p.Leu347=
ENST00000651434.1:c.2242T=
ENST00000651750.1:c.274T=
ENST00000652487.1:c.1983T=
ENST00000423048.5:c.4377T=	ENSP00000399833.1:n.4377T=
ENST00000484298.5:c.10760T=	ENSP00000478155.1:p.Leu3587=
ENST00000613296.4:c.10886T=	ENSP00000482968.1:p.Leu3629=
ENST00000614410.4:c.10886T=	ENSP00000479094.1:p.Leu3629=
ENST00000620466.4:n.4689T=
NM_015120.4:c.10889T= , LRG_741t1:c.10889T=	NP_055935.4:p.Leu3630=
NM_001378454.1:c.10886T= MANE Select	NP_001365383.1:p.Leu3629=