Canonical Allele Identifier: CA427024392

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73800014A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572887A>G , CM000664.2:g.73572887A>G	GRCh38
NC_000002.11:g.73800014A>G , CM000664.1:g.73800014A>G	GRCh37
NC_000002.10:g.73653522A>G	NCBI36
NG_011690.1:g.192135A>G , LRG_741:g.192135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10629A>G	ENSP00000507671.1:p.Arg3543=
ENST00000682801.1:c.10629A>G	ENSP00000507862.1:p.Arg3543=
ENST00000682859.1:c.10629A>G	ENSP00000508222.1:p.Arg3543=
ENST00000683791.1:c.3715A>G
ENST00000684460.1:c.7910A>G
ENST00000684548.1:c.10629A>G	ENSP00000507421.1:p.Arg3543=
ENST00000684590.1:c.5076A>G	ENSP00000507376.1:p.Arg1692=
ENST00000684656.1:c.7955A>G
ENST00000613296.6:c.11010A>G MANE Select	ENSP00000482968.1:p.Arg3670=
ENST00000651057.1:c.1164A>G	ENSP00000498504.1:p.Arg388=
ENST00000651434.1:c.2366A>G
ENST00000651750.1:c.398A>G
ENST00000652487.1:c.2107A>G
ENST00000423048.5:c.4501A>G	ENSP00000399833.1:n.4501A>G
ENST00000484298.5:c.10884A>G	ENSP00000478155.1:p.Arg3628=
ENST00000613296.4:c.11010A>G	ENSP00000482968.1:p.Arg3670=
ENST00000614410.4:c.11010A>G	ENSP00000479094.1:p.Arg3670=
ENST00000620466.4:n.4813A>G
NM_015120.4:c.11013A>G , LRG_741t1:c.11013A>G	NP_055935.4:p.Arg3671=
NM_001378454.1:c.11010A>G MANE Select	NP_001365383.1:p.Arg3670=