Canonical Allele Identifier: CA1715008

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 240973
• ClinVar RCV Id: RCV000226104 ; RCV000594767 ; RCV001705275 ; RCV002401900
• dbSNP Id: rs28730858
• ExAC: 2:73799468 A / G
• gnomAD v2: 2-73799468-A-G
• gnomAD v3: 2-73572341-A-G
• gnomAD v4: 2-73572341-A-G
• MyVariant Identifiers: chr2:g.73799468A>G (hg19) ; chr2:g.73572341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572341A>G , CM000664.2:g.73572341A>G	GRCh38
NC_000002.11:g.73799468A>G , CM000664.1:g.73799468A>G	GRCh37
NC_000002.10:g.73652976A>G	NCBI36
NG_011690.1:g.191589A>G , LRG_741:g.191589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10083A>G	ENSP00000507671.1:p.Val3361=
ENST00000682801.1:c.10083A>G	ENSP00000507862.1:p.Val3361=
ENST00000682859.1:c.10083A>G	ENSP00000508222.1:p.Val3361=
ENST00000683791.1:c.3169A>G
ENST00000684460.1:c.7364A>G
ENST00000684548.1:c.10083A>G	ENSP00000507421.1:p.Val3361=
ENST00000684590.1:c.4530A>G	ENSP00000507376.1:p.Val1510=
ENST00000684656.1:c.7409A>G
ENST00000613296.6:c.10464A>G MANE Select	ENSP00000482968.1:p.Val3488=
ENST00000651057.1:c.618A>G	ENSP00000498504.1:p.Val206=
ENST00000651434.1:c.1820A>G
ENST00000652487.1:c.1561A>G
ENST00000423048.5:c.3955A>G	ENSP00000399833.1:n.3955A>G
ENST00000484298.5:c.10338A>G	ENSP00000478155.1:p.Val3446=
ENST00000613296.4:c.10464A>G	ENSP00000482968.1:p.Val3488=
ENST00000614410.4:c.10464A>G	ENSP00000479094.1:p.Val3488=
ENST00000620466.4:n.4267A>G
NM_015120.4:c.10467A>G , LRG_741t1:c.10467A>G	NP_055935.4:p.Val3489=
NM_001378454.1:c.10464A>G MANE Select	NP_001365383.1:p.Val3488=