Canonical Allele Identifier: CA1261033691

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601231C= , CM000664.2:g.73601231C=	GRCh38
NC_000002.11:g.73828358C= , CM000664.1:g.73828358C=	GRCh37
NC_000002.10:g.73681866C=	NCBI36
NG_011690.1:g.220479C= , LRG_741:g.220479C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11528C=	ENSP00000507671.1:p.Ser3843=
ENST00000682801.1:c.11167-954C=	ENSP00000507862.1:n.11167-954C=
ENST00000682859.1:c.11528C=	ENSP00000508222.1:p.Ser3843=
ENST00000683791.1:c.4614C=
ENST00000684460.1:c.8809C=
ENST00000684548.1:c.11528C=	ENSP00000507421.1:p.Ser3843=
ENST00000684590.1:c.5975C=	ENSP00000507376.1:p.Ser1992=
ENST00000684656.1:c.8993C=
ENST00000613296.6:c.11909C= MANE Select	ENSP00000482968.1:p.Ser3970=
ENST00000651057.1:c.2063C=	ENSP00000498504.1:p.Ser688=
ENST00000651434.1:c.3265C=
ENST00000651750.1:c.1260+350C=
ENST00000652487.1:c.3080C=
ENST00000464408.3:n.84C=
ENST00000484298.5:c.11783C=	ENSP00000478155.1:p.Ser3928=
ENST00000613296.4:c.11909C=	ENSP00000482968.1:p.Ser3970=
ENST00000620466.4:n.5712C=
NM_015120.4:c.11912C= , LRG_741t1:c.11912C=	NP_055935.4:p.Ser3971=
NM_001378454.1:c.11909C= MANE Select	NP_001365383.1:p.Ser3970=