Canonical Allele Identifier: CA1261021957

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572806T= , CM000664.2:g.73572806T=	GRCh38
NC_000002.11:g.73799933T= , CM000664.1:g.73799933T=	GRCh37
NC_000002.10:g.73653441T=	NCBI36
NG_011690.1:g.192054T= , LRG_741:g.192054T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10548T=	ENSP00000507671.1:p.Ser3516=
ENST00000682801.1:c.10548T=	ENSP00000507862.1:p.Ser3516=
ENST00000682859.1:c.10548T=	ENSP00000508222.1:p.Ser3516=
ENST00000683791.1:c.3634T=
ENST00000684460.1:c.7829T=
ENST00000684548.1:c.10548T=	ENSP00000507421.1:p.Ser3516=
ENST00000684590.1:c.4995T=	ENSP00000507376.1:p.Ser1665=
ENST00000684656.1:c.7874T=
ENST00000613296.6:c.10929T= MANE Select	ENSP00000482968.1:p.Ser3643=
ENST00000651057.1:c.1083T=	ENSP00000498504.1:p.Ser361=
ENST00000651434.1:c.2285T=
ENST00000651750.1:c.317T=
ENST00000652487.1:c.2026T=
ENST00000423048.5:c.4420T=	ENSP00000399833.1:n.4420T=
ENST00000484298.5:c.10803T=	ENSP00000478155.1:p.Ser3601=
ENST00000613296.4:c.10929T=	ENSP00000482968.1:p.Ser3643=
ENST00000614410.4:c.10929T=	ENSP00000479094.1:p.Ser3643=
ENST00000620466.4:n.4732T=
NM_015120.4:c.10932T= , LRG_741t1:c.10932T=	NP_055935.4:p.Ser3644=
NM_001378454.1:c.10929T= MANE Select	NP_001365383.1:p.Ser3643=