Canonical Allele Identifier: CA1260981090

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489659G= , CM000664.2:g.73489659G=	GRCh38
NC_000002.11:g.73716786G= , CM000664.1:g.73716786G=	GRCh37
NC_000002.10:g.73570294G=	NCBI36
NG_011690.1:g.108907G= , LRG_741:g.108907G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7319G=	ENSP00000507671.1:p.Gly2440=
ENST00000682801.1:c.7319G=	ENSP00000507862.1:p.Gly2440=
ENST00000682859.1:c.7319G=	ENSP00000508222.1:p.Gly2440=
ENST00000683791.1:c.711G=
ENST00000684460.1:c.4771G=
ENST00000684548.1:c.7319G=	ENSP00000507421.1:p.Gly2440=
ENST00000684590.1:c.1766G=	ENSP00000507376.1:p.Gly589=
ENST00000684656.1:c.4771G=
ENST00000613296.6:c.7700G= MANE Select	ENSP00000482968.1:p.Gly2567=
ENST00000651434.1:c.896-30116G=
ENST00000423048.5:c.2531G=	ENSP00000399833.1:p.Gly844=
ENST00000484298.5:c.7574G=	ENSP00000478155.1:p.Gly2525=
ENST00000613296.4:c.7700G=	ENSP00000482968.1:p.Gly2567=
ENST00000614410.4:c.7700G=	ENSP00000479094.1:p.Gly2567=
ENST00000620466.4:n.1503G=
NM_015120.4:c.7703G= , LRG_741t1:c.7703G=	NP_055935.4:p.Gly2568=
NM_001378454.1:c.7700G= MANE Select	NP_001365383.1:p.Gly2567=