Canonical Allele Identifier: CA347267069

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828537A>G (hg19) ; chr2:g.73601410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601410A>G , CM000664.2:g.73601410A>G	GRCh38
NC_000002.11:g.73828537A>G , CM000664.1:g.73828537A>G	GRCh37
NC_000002.10:g.73682045A>G	NCBI36
NG_011690.1:g.220658A>G , LRG_741:g.220658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11707A>G	ENSP00000507671.1:p.Arg3903Gly
ENST00000682801.1:c.11167-775A>G	ENSP00000507862.1:n.11167-775A>G
ENST00000682859.1:c.11707A>G	ENSP00000508222.1:p.Arg3903Gly
ENST00000683791.1:c.4793A>G
ENST00000684460.1:c.8988A>G
ENST00000684548.1:c.11707A>G	ENSP00000507421.1:p.Arg3903Gly
ENST00000684590.1:c.6154A>G	ENSP00000507376.1:p.Arg2052Gly
ENST00000684656.1:c.9172A>G
ENST00000613296.6:c.12088A>G MANE Select	ENSP00000482968.1:p.Arg4030Gly
ENST00000651057.1:c.2242A>G	ENSP00000498504.1:p.Arg748Gly
ENST00000651434.1:c.3444A>G
ENST00000651750.1:c.1260+529A>G
ENST00000652487.1:c.3259A>G
ENST00000464408.3:n.263A>G
ENST00000484298.5:c.11962A>G	ENSP00000478155.1:p.Arg3988Gly
ENST00000613296.4:c.12088A>G	ENSP00000482968.1:p.Arg4030Gly
ENST00000620466.4:n.5891A>G
NM_015120.4:c.12091A>G , LRG_741t1:c.12091A>G	NP_055935.4:p.Arg4031Gly
NM_001378454.1:c.12088A>G MANE Select	NP_001365383.1:p.Arg4030Gly