Canonical Allele Identifier: CA1260981300

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490028C= , CM000664.2:g.73490028C=	GRCh38
NC_000002.11:g.73717155C= , CM000664.1:g.73717155C=	GRCh37
NC_000002.10:g.73570663C=	NCBI36
NG_011690.1:g.109276C= , LRG_741:g.109276C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7688C=	ENSP00000507671.1:p.Pro2563=
ENST00000682801.1:c.7688C=	ENSP00000507862.1:p.Pro2563=
ENST00000682859.1:c.7688C=	ENSP00000508222.1:p.Pro2563=
ENST00000683791.1:c.1080C=
ENST00000684460.1:c.5140C=
ENST00000684548.1:c.7688C=	ENSP00000507421.1:p.Pro2563=
ENST00000684590.1:c.2135C=	ENSP00000507376.1:p.Pro712=
ENST00000684656.1:c.5140C=
ENST00000613296.6:c.8069C= MANE Select	ENSP00000482968.1:p.Pro2690=
ENST00000651434.1:c.896-29747C=
ENST00000423048.5:c.2900C=	ENSP00000399833.1:p.Pro967=
ENST00000484298.5:c.7943C=	ENSP00000478155.1:p.Pro2648=
ENST00000613296.4:c.8069C=	ENSP00000482968.1:p.Pro2690=
ENST00000614410.4:c.8069C=	ENSP00000479094.1:p.Pro2690=
ENST00000620466.4:n.1872C=
NM_015120.4:c.8072C= , LRG_741t1:c.8072C=	NP_055935.4:p.Pro2691=
NM_001378454.1:c.8069C= MANE Select	NP_001365383.1:p.Pro2690=