Canonical Allele Identifier: CA426783557

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828434A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601307A>G , CM000664.2:g.73601307A>G	GRCh38
NC_000002.11:g.73828434A>G , CM000664.1:g.73828434A>G	GRCh37
NC_000002.10:g.73681942A>G	NCBI36
NG_011690.1:g.220555A>G , LRG_741:g.220555A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11604A>G	ENSP00000507671.1:p.Arg3868=
ENST00000682801.1:c.11167-878A>G	ENSP00000507862.1:n.11167-878A>G
ENST00000682859.1:c.11604A>G	ENSP00000508222.1:p.Arg3868=
ENST00000683791.1:c.4690A>G
ENST00000684460.1:c.8885A>G
ENST00000684548.1:c.11604A>G	ENSP00000507421.1:p.Arg3868=
ENST00000684590.1:c.6051A>G	ENSP00000507376.1:p.Arg2017=
ENST00000684656.1:c.9069A>G
ENST00000613296.6:c.11985A>G MANE Select	ENSP00000482968.1:p.Arg3995=
ENST00000651057.1:c.2139A>G	ENSP00000498504.1:p.Arg713=
ENST00000651434.1:c.3341A>G
ENST00000651750.1:c.1260+426A>G
ENST00000652487.1:c.3156A>G
ENST00000464408.3:n.160A>G
ENST00000484298.5:c.11859A>G	ENSP00000478155.1:p.Arg3953=
ENST00000613296.4:c.11985A>G	ENSP00000482968.1:p.Arg3995=
ENST00000620466.4:n.5788A>G
NM_015120.4:c.11988A>G , LRG_741t1:c.11988A>G	NP_055935.4:p.Arg3996=
NM_001378454.1:c.11985A>G MANE Select	NP_001365383.1:p.Arg3995=