Canonical Allele Identifier: CA1261034173

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601435A= , CM000664.2:g.73601435A=	GRCh38
NC_000002.11:g.73828562A= , CM000664.1:g.73828562A=	GRCh37
NC_000002.10:g.73682070A=	NCBI36
NG_011690.1:g.220683A= , LRG_741:g.220683A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11732A=	ENSP00000507671.1:p.Gln3911=
ENST00000682801.1:c.11167-750A=	ENSP00000507862.1:n.11167-750A=
ENST00000682859.1:c.11732A=	ENSP00000508222.1:p.Gln3911=
ENST00000683791.1:c.4818A=
ENST00000684460.1:c.9013A=
ENST00000684548.1:c.11732A=	ENSP00000507421.1:p.Gln3911=
ENST00000684590.1:c.6179A=	ENSP00000507376.1:p.Gln2060=
ENST00000684656.1:c.9197A=
ENST00000613296.6:c.12113A= MANE Select	ENSP00000482968.1:p.Gln4038=
ENST00000651057.1:c.2267A=	ENSP00000498504.1:p.Gln756=
ENST00000651434.1:c.3469A=
ENST00000651750.1:c.1260+554A=
ENST00000652487.1:c.3284A=
ENST00000464408.3:n.288A=
ENST00000484298.5:c.11987A=	ENSP00000478155.1:p.Gln3996=
ENST00000613296.4:c.12113A=	ENSP00000482968.1:p.Gln4038=
ENST00000620466.4:n.5916A=
NM_015120.4:c.12116A= , LRG_741t1:c.12116A=	NP_055935.4:p.Gln4039=
NM_001378454.1:c.12113A= MANE Select	NP_001365383.1:p.Gln4038=