Canonical Allele Identifier: CA1261021247

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572518C= , CM000664.2:g.73572518C=	GRCh38
NC_000002.11:g.73799645C= , CM000664.1:g.73799645C=	GRCh37
NC_000002.10:g.73653153C=	NCBI36
NG_011690.1:g.191766C= , LRG_741:g.191766C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10260C=	ENSP00000507671.1:p.Ser3420=
ENST00000682801.1:c.10260C=	ENSP00000507862.1:p.Ser3420=
ENST00000682859.1:c.10260C=	ENSP00000508222.1:p.Ser3420=
ENST00000683791.1:c.3346C=
ENST00000684460.1:c.7541C=
ENST00000684548.1:c.10260C=	ENSP00000507421.1:p.Ser3420=
ENST00000684590.1:c.4707C=	ENSP00000507376.1:p.Ser1569=
ENST00000684656.1:c.7586C=
ENST00000613296.6:c.10641C= MANE Select	ENSP00000482968.1:p.Ser3547=
ENST00000651057.1:c.795C=	ENSP00000498504.1:p.Ser265=
ENST00000651434.1:c.1997C=
ENST00000651750.1:c.29C=
ENST00000652487.1:c.1738C=
ENST00000423048.5:c.4132C=	ENSP00000399833.1:n.4132C=
ENST00000484298.5:c.10515C=	ENSP00000478155.1:p.Ser3505=
ENST00000613296.4:c.10641C=	ENSP00000482968.1:p.Ser3547=
ENST00000614410.4:c.10641C=	ENSP00000479094.1:p.Ser3547=
ENST00000620466.4:n.4444C=
NM_015120.4:c.10644C= , LRG_741t1:c.10644C=	NP_055935.4:p.Ser3548=
NM_001378454.1:c.10641C= MANE Select	NP_001365383.1:p.Ser3547=