Canonical Allele Identifier: CA347286534

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1790807
• ClinVar RCV Id: RCV002459692
• dbSNP Id: rs1484586067
• gnomAD v3: 2-73572846-G-C
• gnomAD v4: 2-73572846-G-C
• MyVariant Identifiers: chr2:g.73799973G>C (hg19) ; chr2:g.73572846G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572846G>C , CM000664.2:g.73572846G>C	GRCh38
NC_000002.11:g.73799973G>C , CM000664.1:g.73799973G>C	GRCh37
NC_000002.10:g.73653481G>C	NCBI36
NG_011690.1:g.192094G>C , LRG_741:g.192094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10588G>C	ENSP00000507671.1:p.Glu3530Gln
ENST00000682801.1:c.10588G>C	ENSP00000507862.1:p.Glu3530Gln
ENST00000682859.1:c.10588G>C	ENSP00000508222.1:p.Glu3530Gln
ENST00000683791.1:c.3674G>C
ENST00000684460.1:c.7869G>C
ENST00000684548.1:c.10588G>C	ENSP00000507421.1:p.Glu3530Gln
ENST00000684590.1:c.5035G>C	ENSP00000507376.1:p.Glu1679Gln
ENST00000684656.1:c.7914G>C
ENST00000613296.6:c.10969G>C MANE Select	ENSP00000482968.1:p.Glu3657Gln
ENST00000651057.1:c.1123G>C	ENSP00000498504.1:p.Glu375Gln
ENST00000651434.1:c.2325G>C
ENST00000651750.1:c.357G>C
ENST00000652487.1:c.2066G>C
ENST00000423048.5:c.4460G>C	ENSP00000399833.1:n.4460G>C
ENST00000484298.5:c.10843G>C	ENSP00000478155.1:p.Glu3615Gln
ENST00000613296.4:c.10969G>C	ENSP00000482968.1:p.Glu3657Gln
ENST00000614410.4:c.10969G>C	ENSP00000479094.1:p.Glu3657Gln
ENST00000620466.4:n.4772G>C
NM_015120.4:c.10972G>C , LRG_741t1:c.10972G>C	NP_055935.4:p.Glu3658Gln
NM_001378454.1:c.10969G>C MANE Select	NP_001365383.1:p.Glu3657Gln