Canonical Allele Identifier: CA347266488

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828469A>G (hg19) ; chr2:g.73601342A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601342A>G , CM000664.2:g.73601342A>G	GRCh38
NC_000002.11:g.73828469A>G , CM000664.1:g.73828469A>G	GRCh37
NC_000002.10:g.73681977A>G	NCBI36
NG_011690.1:g.220590A>G , LRG_741:g.220590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11639A>G	ENSP00000507671.1:p.Gln3880Arg
ENST00000682801.1:c.11167-843A>G	ENSP00000507862.1:n.11167-843A>G
ENST00000682859.1:c.11639A>G	ENSP00000508222.1:p.Gln3880Arg
ENST00000683791.1:c.4725A>G
ENST00000684460.1:c.8920A>G
ENST00000684548.1:c.11639A>G	ENSP00000507421.1:p.Gln3880Arg
ENST00000684590.1:c.6086A>G	ENSP00000507376.1:p.Gln2029Arg
ENST00000684656.1:c.9104A>G
ENST00000613296.6:c.12020A>G MANE Select	ENSP00000482968.1:p.Gln4007Arg
ENST00000651057.1:c.2174A>G	ENSP00000498504.1:p.Gln725Arg
ENST00000651434.1:c.3376A>G
ENST00000651750.1:c.1260+461A>G
ENST00000652487.1:c.3191A>G
ENST00000464408.3:n.195A>G
ENST00000484298.5:c.11894A>G	ENSP00000478155.1:p.Gln3965Arg
ENST00000613296.4:c.12020A>G	ENSP00000482968.1:p.Gln4007Arg
ENST00000620466.4:n.5823A>G
NM_015120.4:c.12023A>G , LRG_741t1:c.12023A>G	NP_055935.4:p.Gln4008Arg
NM_001378454.1:c.12020A>G MANE Select	NP_001365383.1:p.Gln4007Arg