Canonical Allele Identifier: CA1261033626

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601197G= , CM000664.2:g.73601197G=	GRCh38
NC_000002.11:g.73828324G= , CM000664.1:g.73828324G=	GRCh37
NC_000002.10:g.73681832G=	NCBI36
NG_011690.1:g.220445G= , LRG_741:g.220445G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11494G=	ENSP00000507671.1:p.Val3832=
ENST00000682801.1:c.11167-988G=	ENSP00000507862.1:n.11167-988G=
ENST00000682859.1:c.11494G=	ENSP00000508222.1:p.Val3832=
ENST00000683791.1:c.4580G=
ENST00000684460.1:c.8775G=
ENST00000684548.1:c.11494G=	ENSP00000507421.1:p.Val3832=
ENST00000684590.1:c.5941G=	ENSP00000507376.1:p.Val1981=
ENST00000684656.1:c.8959G=
ENST00000613296.6:c.11875G= MANE Select	ENSP00000482968.1:p.Val3959=
ENST00000651057.1:c.2029G=	ENSP00000498504.1:p.Val677=
ENST00000651434.1:c.3231G=
ENST00000651750.1:c.1260+316G=
ENST00000652487.1:c.3046G=
ENST00000464408.3:n.50G=
ENST00000484298.5:c.11749G=	ENSP00000478155.1:p.Val3917=
ENST00000613296.4:c.11875G=	ENSP00000482968.1:p.Val3959=
ENST00000620466.4:n.5678G=
NM_015120.4:c.11878G= , LRG_741t1:c.11878G=	NP_055935.4:p.Val3960=
NM_001378454.1:c.11875G= MANE Select	NP_001365383.1:p.Val3959=