Canonical Allele Identifier: CA1260981147

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489765T= , CM000664.2:g.73489765T=	GRCh38
NC_000002.11:g.73716892T= , CM000664.1:g.73716892T=	GRCh37
NC_000002.10:g.73570400T=	NCBI36
NG_011690.1:g.109013T= , LRG_741:g.109013T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7425T=	ENSP00000507671.1:p.Cys2475=
ENST00000682801.1:c.7425T=	ENSP00000507862.1:p.Cys2475=
ENST00000682859.1:c.7425T=	ENSP00000508222.1:p.Cys2475=
ENST00000683791.1:c.817T=
ENST00000684460.1:c.4877T=
ENST00000684548.1:c.7425T=	ENSP00000507421.1:p.Cys2475=
ENST00000684590.1:c.1872T=	ENSP00000507376.1:p.Cys624=
ENST00000684656.1:c.4877T=
ENST00000613296.6:c.7806T= MANE Select	ENSP00000482968.1:p.Cys2602=
ENST00000651434.1:c.896-30010T=
ENST00000423048.5:c.2637T=	ENSP00000399833.1:p.Cys879=
ENST00000484298.5:c.7680T=	ENSP00000478155.1:p.Cys2560=
ENST00000613296.4:c.7806T=	ENSP00000482968.1:p.Cys2602=
ENST00000614410.4:c.7806T=	ENSP00000479094.1:p.Cys2602=
ENST00000620466.4:n.1609T=
NM_015120.4:c.7809T= , LRG_741t1:c.7809T=	NP_055935.4:p.Cys2603=
NM_001378454.1:c.7806T= MANE Select	NP_001365383.1:p.Cys2602=