Canonical Allele Identifier: CA1715416

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2151856
• ClinVar RCV Id: RCV003061514
• dbSNP Id: rs760321596
• ExAC: 2:73828517 A / G
• gnomAD v2: 2-73828517-A-G
• gnomAD v4: 2-73601390-A-G
• MyVariant Identifiers: chr2:g.73828517A>G (hg19) ; chr2:g.73601390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601390A>G , CM000664.2:g.73601390A>G	GRCh38
NC_000002.11:g.73828517A>G , CM000664.1:g.73828517A>G	GRCh37
NC_000002.10:g.73682025A>G	NCBI36
NG_011690.1:g.220638A>G , LRG_741:g.220638A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11687A>G	ENSP00000507671.1:p.Glu3896Gly
ENST00000682801.1:c.11167-795A>G	ENSP00000507862.1:n.11167-795A>G
ENST00000682859.1:c.11687A>G	ENSP00000508222.1:p.Glu3896Gly
ENST00000683791.1:c.4773A>G
ENST00000684460.1:c.8968A>G
ENST00000684548.1:c.11687A>G	ENSP00000507421.1:p.Glu3896Gly
ENST00000684590.1:c.6134A>G	ENSP00000507376.1:p.Glu2045Gly
ENST00000684656.1:c.9152A>G
ENST00000613296.6:c.12068A>G MANE Select	ENSP00000482968.1:p.Glu4023Gly
ENST00000651057.1:c.2222A>G	ENSP00000498504.1:p.Glu741Gly
ENST00000651434.1:c.3424A>G
ENST00000651750.1:c.1260+509A>G
ENST00000652487.1:c.3239A>G
ENST00000464408.3:n.243A>G
ENST00000484298.5:c.11942A>G	ENSP00000478155.1:p.Glu3981Gly
ENST00000613296.4:c.12068A>G	ENSP00000482968.1:p.Glu4023Gly
ENST00000620466.4:n.5871A>G
NM_015120.4:c.12071A>G , LRG_741t1:c.12071A>G	NP_055935.4:p.Glu4024Gly
NM_001378454.1:c.12068A>G MANE Select	NP_001365383.1:p.Glu4023Gly