Canonical Allele Identifier: CA1260981541

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490134C= , CM000664.2:g.73490134C=	GRCh38
NC_000002.11:g.73717261C= , CM000664.1:g.73717261C=	GRCh37
NC_000002.10:g.73570769C=	NCBI36
NG_011690.1:g.109382C= , LRG_741:g.109382C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7794C=	ENSP00000507671.1:p.Cys2598=
ENST00000682801.1:c.7794C=	ENSP00000507862.1:p.Cys2598=
ENST00000682859.1:c.7794C=	ENSP00000508222.1:p.Cys2598=
ENST00000683791.1:c.1186C=
ENST00000684460.1:c.5246C=
ENST00000684548.1:c.7794C=	ENSP00000507421.1:p.Cys2598=
ENST00000684590.1:c.2241C=	ENSP00000507376.1:p.Cys747=
ENST00000684656.1:c.5246C=
ENST00000613296.6:c.8175C= MANE Select	ENSP00000482968.1:p.Cys2725=
ENST00000651434.1:c.896-29641C=
ENST00000423048.5:c.3006C=	ENSP00000399833.1:p.Cys1002=
ENST00000484298.5:c.8049C=	ENSP00000478155.1:p.Cys2683=
ENST00000613296.4:c.8175C=	ENSP00000482968.1:p.Cys2725=
ENST00000614410.4:c.8175C=	ENSP00000479094.1:p.Cys2725=
ENST00000620466.4:n.1978C=
NM_015120.4:c.8178C= , LRG_741t1:c.8178C=	NP_055935.4:p.Cys2726=
NM_001378454.1:c.8175C= MANE Select	NP_001365383.1:p.Cys2725=