Canonical Allele Identifier: CA1261021953

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572805C= , CM000664.2:g.73572805C=	GRCh38
NC_000002.11:g.73799932C= , CM000664.1:g.73799932C=	GRCh37
NC_000002.10:g.73653440C=	NCBI36
NG_011690.1:g.192053C= , LRG_741:g.192053C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10547C=	ENSP00000507671.1:p.Ser3516=
ENST00000682801.1:c.10547C=	ENSP00000507862.1:p.Ser3516=
ENST00000682859.1:c.10547C=	ENSP00000508222.1:p.Ser3516=
ENST00000683791.1:c.3633C=
ENST00000684460.1:c.7828C=
ENST00000684548.1:c.10547C=	ENSP00000507421.1:p.Ser3516=
ENST00000684590.1:c.4994C=	ENSP00000507376.1:p.Ser1665=
ENST00000684656.1:c.7873C=
ENST00000613296.6:c.10928C= MANE Select	ENSP00000482968.1:p.Ser3643=
ENST00000651057.1:c.1082C=	ENSP00000498504.1:p.Ser361=
ENST00000651434.1:c.2284C=
ENST00000651750.1:c.316C=
ENST00000652487.1:c.2025C=
ENST00000423048.5:c.4419C=	ENSP00000399833.1:n.4419C=
ENST00000484298.5:c.10802C=	ENSP00000478155.1:p.Ser3601=
ENST00000613296.4:c.10928C=	ENSP00000482968.1:p.Ser3643=
ENST00000614410.4:c.10928C=	ENSP00000479094.1:p.Ser3643=
ENST00000620466.4:n.4731C=
NM_015120.4:c.10931C= , LRG_741t1:c.10931C=	NP_055935.4:p.Ser3644=
NM_001378454.1:c.10928C= MANE Select	NP_001365383.1:p.Ser3643=