Canonical Allele Identifier: CA1715410

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1355440
• ClinVar RCV Id: RCV001888037
• dbSNP Id: rs768365250
• ExAC: 2:73828490 G / A
• gnomAD v2: 2-73828490-G-A
• gnomAD v4: 2-73601363-G-A
• MyVariant Identifiers: chr2:g.73828490G>A (hg19) ; chr2:g.73601363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601363G>A , CM000664.2:g.73601363G>A	GRCh38
NC_000002.11:g.73828490G>A , CM000664.1:g.73828490G>A	GRCh37
NC_000002.10:g.73681998G>A	NCBI36
NG_011690.1:g.220611G>A , LRG_741:g.220611G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11660G>A	ENSP00000507671.1:p.Arg3887Gln
ENST00000682801.1:c.11167-822G>A	ENSP00000507862.1:n.11167-822G>A
ENST00000682859.1:c.11660G>A	ENSP00000508222.1:p.Arg3887Gln
ENST00000683791.1:c.4746G>A
ENST00000684460.1:c.8941G>A
ENST00000684548.1:c.11660G>A	ENSP00000507421.1:p.Arg3887Gln
ENST00000684590.1:c.6107G>A	ENSP00000507376.1:p.Arg2036Gln
ENST00000684656.1:c.9125G>A
ENST00000613296.6:c.12041G>A MANE Select	ENSP00000482968.1:p.Arg4014Gln
ENST00000651057.1:c.2195G>A	ENSP00000498504.1:p.Arg732Gln
ENST00000651434.1:c.3397G>A
ENST00000651750.1:c.1260+482G>A
ENST00000652487.1:c.3212G>A
ENST00000464408.3:n.216G>A
ENST00000484298.5:c.11915G>A	ENSP00000478155.1:p.Arg3972Gln
ENST00000613296.4:c.12041G>A	ENSP00000482968.1:p.Arg4014Gln
ENST00000620466.4:n.5844G>A
NM_015120.4:c.12044G>A , LRG_741t1:c.12044G>A	NP_055935.4:p.Arg4015Gln
NM_001378454.1:c.12041G>A MANE Select	NP_001365383.1:p.Arg4014Gln