Canonical Allele Identifier: CA426783570

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828453C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601326C>A , CM000664.2:g.73601326C>A	GRCh38
NC_000002.11:g.73828453C>A , CM000664.1:g.73828453C>A	GRCh37
NC_000002.10:g.73681961C>A	NCBI36
NG_011690.1:g.220574C>A , LRG_741:g.220574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11623C>A	ENSP00000507671.1:p.Arg3875=
ENST00000682801.1:c.11167-859C>A	ENSP00000507862.1:n.11167-859C>A
ENST00000682859.1:c.11623C>A	ENSP00000508222.1:p.Arg3875=
ENST00000683791.1:c.4709C>A
ENST00000684460.1:c.8904C>A
ENST00000684548.1:c.11623C>A	ENSP00000507421.1:p.Arg3875=
ENST00000684590.1:c.6070C>A	ENSP00000507376.1:p.Arg2024=
ENST00000684656.1:c.9088C>A
ENST00000613296.6:c.12004C>A MANE Select	ENSP00000482968.1:p.Arg4002=
ENST00000651057.1:c.2158C>A	ENSP00000498504.1:p.Arg720=
ENST00000651434.1:c.3360C>A
ENST00000651750.1:c.1260+445C>A
ENST00000652487.1:c.3175C>A
ENST00000464408.3:n.179C>A
ENST00000484298.5:c.11878C>A	ENSP00000478155.1:p.Arg3960=
ENST00000613296.4:c.12004C>A	ENSP00000482968.1:p.Arg4002=
ENST00000620466.4:n.5807C>A
NM_015120.4:c.12007C>A , LRG_741t1:c.12007C>A	NP_055935.4:p.Arg4003=
NM_001378454.1:c.12004C>A MANE Select	NP_001365383.1:p.Arg4002=