Canonical Allele Identifier: CA1714415

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1400284
• ClinVar RCV Id: RCV001918116 ; RCV002554343
• dbSNP Id: rs745857579
• ExAC: 2:73717248 G / A
• gnomAD v2: 2-73717248-G-A
• gnomAD v3: 2-73490121-G-A
• gnomAD v4: 2-73490121-G-A
• MyVariant Identifiers: chr2:g.73717248G>A (hg19) ; chr2:g.73490121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490121G>A , CM000664.2:g.73490121G>A	GRCh38
NC_000002.11:g.73717248G>A , CM000664.1:g.73717248G>A	GRCh37
NC_000002.10:g.73570756G>A	NCBI36
NG_011690.1:g.109369G>A , LRG_741:g.109369G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.7781G>A	ENSP00000507671.1:p.Arg2594Gln
ENST00000682801.1:c.7781G>A	ENSP00000507862.1:p.Arg2594Gln
ENST00000682859.1:c.7781G>A	ENSP00000508222.1:p.Arg2594Gln
ENST00000683791.1:c.1173G>A
ENST00000684460.1:c.5233G>A
ENST00000684548.1:c.7781G>A	ENSP00000507421.1:p.Arg2594Gln
ENST00000684590.1:c.2228G>A	ENSP00000507376.1:p.Arg743Gln
ENST00000684656.1:c.5233G>A
ENST00000613296.6:c.8162G>A MANE Select	ENSP00000482968.1:p.Arg2721Gln
ENST00000651434.1:c.896-29654G>A
ENST00000423048.5:c.2993G>A	ENSP00000399833.1:p.Arg998Gln
ENST00000484298.5:c.8036G>A	ENSP00000478155.1:p.Arg2679Gln
ENST00000613296.4:c.8162G>A	ENSP00000482968.1:p.Arg2721Gln
ENST00000614410.4:c.8162G>A	ENSP00000479094.1:p.Arg2721Gln
ENST00000620466.4:n.1965G>A
NM_015120.4:c.8165G>A , LRG_741t1:c.8165G>A	NP_055935.4:p.Arg2722Gln
NM_001378454.1:c.8162G>A MANE Select	NP_001365383.1:p.Arg2721Gln