Canonical Allele Identifier: CA1260981531

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490129A= , CM000664.2:g.73490129A=	GRCh38
NC_000002.11:g.73717256A= , CM000664.1:g.73717256A=	GRCh37
NC_000002.10:g.73570764A=	NCBI36
NG_011690.1:g.109377A= , LRG_741:g.109377A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7789A=	ENSP00000507671.1:p.Lys2597=
ENST00000682801.1:c.7789A=	ENSP00000507862.1:p.Lys2597=
ENST00000682859.1:c.7789A=	ENSP00000508222.1:p.Lys2597=
ENST00000683791.1:c.1181A=
ENST00000684460.1:c.5241A=
ENST00000684548.1:c.7789A=	ENSP00000507421.1:p.Lys2597=
ENST00000684590.1:c.2236A=	ENSP00000507376.1:p.Lys746=
ENST00000684656.1:c.5241A=
ENST00000613296.6:c.8170A= MANE Select	ENSP00000482968.1:p.Lys2724=
ENST00000651434.1:c.896-29646A=
ENST00000423048.5:c.3001A=	ENSP00000399833.1:p.Lys1001=
ENST00000484298.5:c.8044A=	ENSP00000478155.1:p.Lys2682=
ENST00000613296.4:c.8170A=	ENSP00000482968.1:p.Lys2724=
ENST00000614410.4:c.8170A=	ENSP00000479094.1:p.Lys2724=
ENST00000620466.4:n.1973A=
NM_015120.4:c.8173A= , LRG_741t1:c.8173A=	NP_055935.4:p.Lys2725=
NM_001378454.1:c.8170A= MANE Select	NP_001365383.1:p.Lys2724=