Canonical Allele Identifier: CA1713573

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 403935
• ClinVar RCV Id: RCV000462849 ; RCV000523577 ; RCV001195325 ; RCV002348257
• dbSNP Id: rs372619046
• ExAC: 2:73677343 G / A
• gnomAD v2: 2-73677343-G-A
• gnomAD v3: 2-73450216-G-A
• gnomAD v4: 2-73450216-G-A
• MyVariant Identifiers: chr2:g.73677343G>A (hg19) ; chr2:g.73450216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73450216G>A , CM000664.2:g.73450216G>A	GRCh38
NC_000002.11:g.73677343G>A , CM000664.1:g.73677343G>A	GRCh37
NC_000002.10:g.73530851G>A	NCBI36
NG_011690.1:g.69464G>A , LRG_741:g.69464G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.3308G>A	ENSP00000507671.1:p.Gly1103Glu
ENST00000682801.1:c.3308G>A	ENSP00000507862.1:p.Gly1103Glu
ENST00000682859.1:c.3308G>A	ENSP00000508222.1:p.Gly1103Glu
ENST00000683791.1:c.685+17925G>A
ENST00000684460.1:c.760G>A
ENST00000684548.1:c.3308G>A	ENSP00000507421.1:p.Gly1103Glu
ENST00000684656.1:c.760G>A
ENST00000613296.6:c.3689G>A MANE Select	ENSP00000482968.1:p.Gly1230Glu
ENST00000484298.5:c.3563G>A	ENSP00000478155.1:p.Gly1188Glu
ENST00000613296.4:c.3689G>A	ENSP00000482968.1:p.Gly1230Glu
ENST00000614410.4:c.3689G>A	ENSP00000479094.1:p.Gly1230Glu
NM_015120.4:c.3692G>A , LRG_741t1:c.3692G>A	NP_055935.4:p.Gly1231Glu
NM_001378454.1:c.3689G>A MANE Select	NP_001365383.1:p.Gly1230Glu