Canonical Allele Identifier: CA1713191

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 390294
• ClinVar RCV Id: RCV000443659 ; RCV000860715 ; RCV002402200
• dbSNP Id: rs202002052
• ExAC: 2:73675205 C / G
• gnomAD v2: 2-73675205-C-G
• gnomAD v3: 2-73448075-C-G
• gnomAD v4: 2-73448075-C-G
• MyVariant Identifiers: chr2:g.73675205C>G (hg19) ; chr2:g.73448075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73448075C>G , CM000664.2:g.73448075C>G	GRCh38
NC_000002.11:g.73675205C>G , CM000664.1:g.73675205C>G	GRCh37
NC_000002.10:g.73528713C>G	NCBI36
NG_011690.1:g.67323C>G , LRG_741:g.67323C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.1167C>G	ENSP00000507671.1:p.Asp389Glu
ENST00000682801.1:c.1167C>G	ENSP00000507862.1:p.Asp389Glu
ENST00000682859.1:c.1167C>G	ENSP00000508222.1:p.Asp389Glu
ENST00000683791.1:c.685+15784C>G
ENST00000684548.1:c.1167C>G	ENSP00000507421.1:p.Asp389Glu
ENST00000613296.6:c.1548C>G MANE Select	ENSP00000482968.1:p.Asp516Glu
ENST00000484298.5:c.1422C>G	ENSP00000478155.1:p.Asp474Glu
ENST00000613296.4:c.1548C>G	ENSP00000482968.1:p.Asp516Glu
ENST00000614410.4:c.1548C>G	ENSP00000479094.1:p.Asp516Glu
NM_015120.4:c.1551C>G , LRG_741t1:c.1551C>G	NP_055935.4:p.Asp517Glu
NM_001378454.1:c.1548C>G MANE Select	NP_001365383.1:p.Asp516Glu