Canonical Allele Identifier: CA1714345

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1093685
• ClinVar RCV Id: RCV001413911 ; RCV002413987
• dbSNP Id: rs565248215
• ExAC: 2:73716850 G / A
• gnomAD v2: 2-73716850-G-A
• gnomAD v3: 2-73489723-G-A
• gnomAD v4: 2-73489723-G-A
• MyVariant Identifiers: chr2:g.73716850G>A (hg19) ; chr2:g.73489723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489723G>A , CM000664.2:g.73489723G>A	GRCh38
NC_000002.11:g.73716850G>A , CM000664.1:g.73716850G>A	GRCh37
NC_000002.10:g.73570358G>A	NCBI36
NG_011690.1:g.108971G>A , LRG_741:g.108971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7383G>A	ENSP00000507671.1:p.Arg2461=
ENST00000682801.1:c.7383G>A	ENSP00000507862.1:p.Arg2461=
ENST00000682859.1:c.7383G>A	ENSP00000508222.1:p.Arg2461=
ENST00000683791.1:c.775G>A
ENST00000684460.1:c.4835G>A
ENST00000684548.1:c.7383G>A	ENSP00000507421.1:p.Arg2461=
ENST00000684590.1:c.1830G>A	ENSP00000507376.1:p.Arg610=
ENST00000684656.1:c.4835G>A
ENST00000613296.6:c.7764G>A MANE Select	ENSP00000482968.1:p.Arg2588=
ENST00000651434.1:c.896-30052G>A
ENST00000423048.5:c.2595G>A	ENSP00000399833.1:p.Arg865=
ENST00000484298.5:c.7638G>A	ENSP00000478155.1:p.Arg2546=
ENST00000613296.4:c.7764G>A	ENSP00000482968.1:p.Arg2588=
ENST00000614410.4:c.7764G>A	ENSP00000479094.1:p.Arg2588=
ENST00000620466.4:n.1567G>A
NM_015120.4:c.7767G>A , LRG_741t1:c.7767G>A	NP_055935.4:p.Arg2589=
NM_001378454.1:c.7764G>A MANE Select	NP_001365383.1:p.Arg2588=