Canonical Allele Identifier: CA1260981687

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490207T= , CM000664.2:g.73490207T=	GRCh38
NC_000002.11:g.73717334T= , CM000664.1:g.73717334T=	GRCh37
NC_000002.10:g.73570842T=	NCBI36
NG_011690.1:g.109455T= , LRG_741:g.109455T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7867T=	ENSP00000507671.1:p.Phe2623=
ENST00000682801.1:c.7867T=	ENSP00000507862.1:p.Phe2623=
ENST00000682859.1:c.7867T=	ENSP00000508222.1:p.Phe2623=
ENST00000683791.1:c.1259T=
ENST00000684460.1:c.5319T=
ENST00000684548.1:c.7867T=	ENSP00000507421.1:p.Phe2623=
ENST00000684590.1:c.2314T=	ENSP00000507376.1:p.Phe772=
ENST00000684656.1:c.5319T=
ENST00000613296.6:c.8248T= MANE Select	ENSP00000482968.1:p.Phe2750=
ENST00000651434.1:c.896-29568T=
ENST00000423048.5:c.3030+49T=	ENSP00000399833.1:n.3030+49T=
ENST00000484298.5:c.8122T=	ENSP00000478155.1:p.Phe2708=
ENST00000613296.4:c.8248T=	ENSP00000482968.1:p.Phe2750=
ENST00000614410.4:c.8248T=	ENSP00000479094.1:p.Phe2750=
ENST00000620466.4:n.2051T=
NM_015120.4:c.8251T= , LRG_741t1:c.8251T=	NP_055935.4:p.Phe2751=
NM_001378454.1:c.8248T= MANE Select	NP_001365383.1:p.Phe2750=