Canonical Allele Identifier: CA1261034132

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601425G= , CM000664.2:g.73601425G=	GRCh38
NC_000002.11:g.73828552G= , CM000664.1:g.73828552G=	GRCh37
NC_000002.10:g.73682060G=	NCBI36
NG_011690.1:g.220673G= , LRG_741:g.220673G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11722G=	ENSP00000507671.1:p.Ala3908=
ENST00000682801.1:c.11167-760G=	ENSP00000507862.1:n.11167-760G=
ENST00000682859.1:c.11722G=	ENSP00000508222.1:p.Ala3908=
ENST00000683791.1:c.4808G=
ENST00000684460.1:c.9003G=
ENST00000684548.1:c.11722G=	ENSP00000507421.1:p.Ala3908=
ENST00000684590.1:c.6169G=	ENSP00000507376.1:p.Ala2057=
ENST00000684656.1:c.9187G=
ENST00000613296.6:c.12103G= MANE Select	ENSP00000482968.1:p.Ala4035=
ENST00000651057.1:c.2257G=	ENSP00000498504.1:p.Ala753=
ENST00000651434.1:c.3459G=
ENST00000651750.1:c.1260+544G=
ENST00000652487.1:c.3274G=
ENST00000464408.3:n.278G=
ENST00000484298.5:c.11977G=	ENSP00000478155.1:p.Ala3993=
ENST00000613296.4:c.12103G=	ENSP00000482968.1:p.Ala4035=
ENST00000620466.4:n.5906G=
NM_015120.4:c.12106G= , LRG_741t1:c.12106G=	NP_055935.4:p.Ala4036=
NM_001378454.1:c.12103G= MANE Select	NP_001365383.1:p.Ala4035=