Canonical Allele Identifier: CA1261021316

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572573C= , CM000664.2:g.73572573C=	GRCh38
NC_000002.11:g.73799700C= , CM000664.1:g.73799700C=	GRCh37
NC_000002.10:g.73653208C=	NCBI36
NG_011690.1:g.191821C= , LRG_741:g.191821C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10315C=	ENSP00000507671.1:p.Gln3439=
ENST00000682801.1:c.10315C=	ENSP00000507862.1:p.Gln3439=
ENST00000682859.1:c.10315C=	ENSP00000508222.1:p.Gln3439=
ENST00000683791.1:c.3401C=
ENST00000684460.1:c.7596C=
ENST00000684548.1:c.10315C=	ENSP00000507421.1:p.Gln3439=
ENST00000684590.1:c.4762C=	ENSP00000507376.1:p.Gln1588=
ENST00000684656.1:c.7641C=
ENST00000613296.6:c.10696C= MANE Select	ENSP00000482968.1:p.Gln3566=
ENST00000651057.1:c.850C=	ENSP00000498504.1:p.Gln284=
ENST00000651434.1:c.2052C=
ENST00000651750.1:c.84C=
ENST00000652487.1:c.1793C=
ENST00000423048.5:c.4187C=	ENSP00000399833.1:n.4187C=
ENST00000484298.5:c.10570C=	ENSP00000478155.1:p.Gln3524=
ENST00000613296.4:c.10696C=	ENSP00000482968.1:p.Gln3566=
ENST00000614410.4:c.10696C=	ENSP00000479094.1:p.Gln3566=
ENST00000620466.4:n.4499C=
NM_015120.4:c.10699C= , LRG_741t1:c.10699C=	NP_055935.4:p.Gln3567=
NM_001378454.1:c.10696C= MANE Select	NP_001365383.1:p.Gln3566=