Canonical Allele Identifier: CA427024456

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800036C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572909C>A , CM000664.2:g.73572909C>A	GRCh38
NC_000002.11:g.73800036C>A , CM000664.1:g.73800036C>A	GRCh37
NC_000002.10:g.73653544C>A	NCBI36
NG_011690.1:g.192157C>A , LRG_741:g.192157C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10651C>A	ENSP00000507671.1:p.Arg3551=
ENST00000682801.1:c.10651C>A	ENSP00000507862.1:p.Arg3551=
ENST00000682859.1:c.10651C>A	ENSP00000508222.1:p.Arg3551=
ENST00000683791.1:c.3737C>A
ENST00000684460.1:c.7932C>A
ENST00000684548.1:c.10651C>A	ENSP00000507421.1:p.Arg3551=
ENST00000684590.1:c.5098C>A	ENSP00000507376.1:p.Arg1700=
ENST00000684656.1:c.7977C>A
ENST00000613296.6:c.11032C>A MANE Select	ENSP00000482968.1:p.Arg3678=
ENST00000651057.1:c.1186C>A	ENSP00000498504.1:p.Arg396=
ENST00000651434.1:c.2388C>A
ENST00000651750.1:c.420C>A
ENST00000652487.1:c.2129C>A
ENST00000423048.5:c.4523C>A	ENSP00000399833.1:n.4523C>A
ENST00000484298.5:c.10906C>A	ENSP00000478155.1:p.Arg3636=
ENST00000613296.4:c.11032C>A	ENSP00000482968.1:p.Arg3678=
ENST00000614410.4:c.11032C>A	ENSP00000479094.1:p.Arg3678=
ENST00000620466.4:n.4835C>A
NM_015120.4:c.11035C>A , LRG_741t1:c.11035C>A	NP_055935.4:p.Arg3679=
NM_001378454.1:c.11032C>A MANE Select	NP_001365383.1:p.Arg3678=