Canonical Allele Identifier: CA1260981287

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490018G= , CM000664.2:g.73490018G=	GRCh38
NC_000002.11:g.73717145G= , CM000664.1:g.73717145G=	GRCh37
NC_000002.10:g.73570653G=	NCBI36
NG_011690.1:g.109266G= , LRG_741:g.109266G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7678G=	ENSP00000507671.1:p.Ala2560=
ENST00000682801.1:c.7678G=	ENSP00000507862.1:p.Ala2560=
ENST00000682859.1:c.7678G=	ENSP00000508222.1:p.Ala2560=
ENST00000683791.1:c.1070G=
ENST00000684460.1:c.5130G=
ENST00000684548.1:c.7678G=	ENSP00000507421.1:p.Ala2560=
ENST00000684590.1:c.2125G=	ENSP00000507376.1:p.Ala709=
ENST00000684656.1:c.5130G=
ENST00000613296.6:c.8059G= MANE Select	ENSP00000482968.1:p.Ala2687=
ENST00000651434.1:c.896-29757G=
ENST00000423048.5:c.2890G=	ENSP00000399833.1:p.Ala964=
ENST00000484298.5:c.7933G=	ENSP00000478155.1:p.Ala2645=
ENST00000613296.4:c.8059G=	ENSP00000482968.1:p.Ala2687=
ENST00000614410.4:c.8059G=	ENSP00000479094.1:p.Ala2687=
ENST00000620466.4:n.1862G=
NM_015120.4:c.8062G= , LRG_741t1:c.8062G=	NP_055935.4:p.Ala2688=
NM_001378454.1:c.8059G= MANE Select	NP_001365383.1:p.Ala2687=