Canonical Allele Identifier: CA1260981895

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490325C= , CM000664.2:g.73490325C=	GRCh38
NC_000002.11:g.73717452C= , CM000664.1:g.73717452C=	GRCh37
NC_000002.10:g.73570960C=	NCBI36
NG_011690.1:g.109573C= , LRG_741:g.109573C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7985C=	ENSP00000507671.1:p.Ala2662=
ENST00000682801.1:c.7985C=	ENSP00000507862.1:p.Ala2662=
ENST00000682859.1:c.7985C=	ENSP00000508222.1:p.Ala2662=
ENST00000683791.1:c.1377C=
ENST00000684460.1:c.5437C=
ENST00000684548.1:c.7985C=	ENSP00000507421.1:p.Ala2662=
ENST00000684590.1:c.2432C=	ENSP00000507376.1:p.Ala811=
ENST00000684656.1:c.5437C=
ENST00000613296.6:c.8366C= MANE Select	ENSP00000482968.1:p.Ala2789=
ENST00000651434.1:c.896-29450C=
ENST00000423048.5:c.3030+167C=	ENSP00000399833.1:n.3030+167C=
ENST00000484298.5:c.8240C=	ENSP00000478155.1:p.Ala2747=
ENST00000613296.4:c.8366C=	ENSP00000482968.1:p.Ala2789=
ENST00000614410.4:c.8366C=	ENSP00000479094.1:p.Ala2789=
ENST00000620466.4:n.2169C=
NM_015120.4:c.8369C= , LRG_741t1:c.8369C=	NP_055935.4:p.Ala2790=
NM_001378454.1:c.8366C= MANE Select	NP_001365383.1:p.Ala2789=