Canonical Allele Identifier: CA1715105

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 965946
• ClinVar RCV Id: RCV001240509 ; RCV002436947
• dbSNP Id: rs371007945
• ExAC: 2:73800037 G / A
• gnomAD v2: 2-73800037-G-A
• gnomAD v3: 2-73572910-G-A
• gnomAD v4: 2-73572910-G-A
• MyVariant Identifiers: chr2:g.73800037G>A (hg19) ; chr2:g.73572910G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572910G>A , CM000664.2:g.73572910G>A	GRCh38
NC_000002.11:g.73800037G>A , CM000664.1:g.73800037G>A	GRCh37
NC_000002.10:g.73653545G>A	NCBI36
NG_011690.1:g.192158G>A , LRG_741:g.192158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10652G>A	ENSP00000507671.1:p.Arg3551Gln
ENST00000682801.1:c.10652G>A	ENSP00000507862.1:p.Arg3551Gln
ENST00000682859.1:c.10652G>A	ENSP00000508222.1:p.Arg3551Gln
ENST00000683791.1:c.3738G>A
ENST00000684460.1:c.7933G>A
ENST00000684548.1:c.10652G>A	ENSP00000507421.1:p.Arg3551Gln
ENST00000684590.1:c.5099G>A	ENSP00000507376.1:p.Arg1700Gln
ENST00000684656.1:c.7978G>A
ENST00000613296.6:c.11033G>A MANE Select	ENSP00000482968.1:p.Arg3678Gln
ENST00000651057.1:c.1187G>A	ENSP00000498504.1:p.Arg396Gln
ENST00000651434.1:c.2389G>A
ENST00000651750.1:c.421G>A
ENST00000652487.1:c.2130G>A
ENST00000423048.5:c.4524G>A	ENSP00000399833.1:n.4524G>A
ENST00000484298.5:c.10907G>A	ENSP00000478155.1:p.Arg3636Gln
ENST00000613296.4:c.11033G>A	ENSP00000482968.1:p.Arg3678Gln
ENST00000614410.4:c.11033G>A	ENSP00000479094.1:p.Arg3678Gln
ENST00000620466.4:n.4836G>A
NM_015120.4:c.11036G>A , LRG_741t1:c.11036G>A	NP_055935.4:p.Arg3679Gln
NM_001378454.1:c.11033G>A MANE Select	NP_001365383.1:p.Arg3678Gln