Canonical Allele Identifier: CA1261021858

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572747T= , CM000664.2:g.73572747T=	GRCh38
NC_000002.11:g.73799874T= , CM000664.1:g.73799874T=	GRCh37
NC_000002.10:g.73653382T=	NCBI36
NG_011690.1:g.191995T= , LRG_741:g.191995T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10489T=	ENSP00000507671.1:p.Ser3497=
ENST00000682801.1:c.10489T=	ENSP00000507862.1:p.Ser3497=
ENST00000682859.1:c.10489T=	ENSP00000508222.1:p.Ser3497=
ENST00000683791.1:c.3575T=
ENST00000684460.1:c.7770T=
ENST00000684548.1:c.10489T=	ENSP00000507421.1:p.Ser3497=
ENST00000684590.1:c.4936T=	ENSP00000507376.1:p.Ser1646=
ENST00000684656.1:c.7815T=
ENST00000613296.6:c.10870T= MANE Select	ENSP00000482968.1:p.Ser3624=
ENST00000651057.1:c.1024T=	ENSP00000498504.1:p.Ser342=
ENST00000651434.1:c.2226T=
ENST00000651750.1:c.258T=
ENST00000652487.1:c.1967T=
ENST00000423048.5:c.4361T=	ENSP00000399833.1:n.4361T=
ENST00000484298.5:c.10744T=	ENSP00000478155.1:p.Ser3582=
ENST00000613296.4:c.10870T=	ENSP00000482968.1:p.Ser3624=
ENST00000614410.4:c.10870T=	ENSP00000479094.1:p.Ser3624=
ENST00000620466.4:n.4673T=
NM_015120.4:c.10873T= , LRG_741t1:c.10873T=	NP_055935.4:p.Ser3625=
NM_001378454.1:c.10870T= MANE Select	NP_001365383.1:p.Ser3624=