Canonical Allele Identifier: CA1713374

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 391955
• ClinVar RCV Id: RCV000418320 ; RCV000468401 ; RCV000767099 ; RCV002429455
• dbSNP Id: rs201154998
• ExAC: 2:73676190 G / A
• gnomAD v2: 2-73676190-G-A
• gnomAD v3: 2-73449063-G-A
• gnomAD v4: 2-73449063-G-A
• MyVariant Identifiers: chr2:g.73676190G>A (hg19) ; chr2:g.73449063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73449063G>A , CM000664.2:g.73449063G>A	GRCh38
NC_000002.11:g.73676190G>A , CM000664.1:g.73676190G>A	GRCh37
NC_000002.10:g.73529698G>A	NCBI36
NG_011690.1:g.68311G>A , LRG_741:g.68311G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.2155G>A	ENSP00000507671.1:p.Gly719Arg
ENST00000682801.1:c.2155G>A	ENSP00000507862.1:p.Gly719Arg
ENST00000682859.1:c.2155G>A	ENSP00000508222.1:p.Gly719Arg
ENST00000683791.1:c.685+16772G>A
ENST00000684548.1:c.2155G>A	ENSP00000507421.1:p.Gly719Arg
ENST00000613296.6:c.2536G>A MANE Select	ENSP00000482968.1:p.Gly846Arg
ENST00000484298.5:c.2410G>A	ENSP00000478155.1:p.Gly804Arg
ENST00000613296.4:c.2536G>A	ENSP00000482968.1:p.Gly846Arg
ENST00000614410.4:c.2536G>A	ENSP00000479094.1:p.Gly846Arg
NM_015120.4:c.2539G>A , LRG_741t1:c.2539G>A	NP_055935.4:p.Gly847Arg
NM_001378454.1:c.2536G>A MANE Select	NP_001365383.1:p.Gly846Arg