Canonical Allele Identifier: CA1715096

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 553003
• ClinVar RCV Id: RCV000668364 ; RCV003303095 ; RCV003128687
• dbSNP Id: rs377418428
• ExAC: 2:73799989 A / G
• gnomAD v2: 2-73799989-A-G
• gnomAD v3: 2-73572862-A-G
• gnomAD v4: 2-73572862-A-G
• MyVariant Identifiers: chr2:g.73799989A>G (hg19) ; chr2:g.73572862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572862A>G , CM000664.2:g.73572862A>G	GRCh38
NC_000002.11:g.73799989A>G , CM000664.1:g.73799989A>G	GRCh37
NC_000002.10:g.73653497A>G	NCBI36
NG_011690.1:g.192110A>G , LRG_741:g.192110A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10604A>G	ENSP00000507671.1:p.Glu3535Gly
ENST00000682801.1:c.10604A>G	ENSP00000507862.1:p.Glu3535Gly
ENST00000682859.1:c.10604A>G	ENSP00000508222.1:p.Glu3535Gly
ENST00000683791.1:c.3690A>G
ENST00000684460.1:c.7885A>G
ENST00000684548.1:c.10604A>G	ENSP00000507421.1:p.Glu3535Gly
ENST00000684590.1:c.5051A>G	ENSP00000507376.1:p.Glu1684Gly
ENST00000684656.1:c.7930A>G
ENST00000613296.6:c.10985A>G MANE Select	ENSP00000482968.1:p.Glu3662Gly
ENST00000651057.1:c.1139A>G	ENSP00000498504.1:p.Glu380Gly
ENST00000651434.1:c.2341A>G
ENST00000651750.1:c.373A>G
ENST00000652487.1:c.2082A>G
ENST00000423048.5:c.4476A>G	ENSP00000399833.1:n.4476A>G
ENST00000484298.5:c.10859A>G	ENSP00000478155.1:p.Glu3620Gly
ENST00000613296.4:c.10985A>G	ENSP00000482968.1:p.Glu3662Gly
ENST00000614410.4:c.10985A>G	ENSP00000479094.1:p.Glu3662Gly
ENST00000620466.4:n.4788A>G
NM_015120.4:c.10988A>G , LRG_741t1:c.10988A>G	NP_055935.4:p.Glu3663Gly
NM_001378454.1:c.10985A>G MANE Select	NP_001365383.1:p.Glu3662Gly