Canonical Allele Identifier: CA349410

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 221012
• ClinVar RCV Id: RCV000424086 ; RCV000445470 ; RCV000710528 ; RCV001082556 ; RCV002381711
• dbSNP Id: rs34071195
• ExAC: 2:73786188 A / G
• gnomAD v2: 2-73786188-A-G
• gnomAD v3: 2-73559061-A-G
• gnomAD v4: 2-73559061-A-G
• MyVariant Identifiers: chr2:g.73786188A>G (hg19) ; chr2:g.73559061A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73559061A>G , CM000664.2:g.73559061A>G	GRCh38
NC_000002.11:g.73786188A>G , CM000664.1:g.73786188A>G	GRCh37
NC_000002.10:g.73639696A>G	NCBI36
NG_011690.1:g.178309A>G , LRG_741:g.178309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9922A>G	ENSP00000507671.1:p.Lys3308Glu
ENST00000682801.1:c.9922A>G	ENSP00000507862.1:p.Lys3308Glu
ENST00000682859.1:c.9922A>G	ENSP00000508222.1:p.Lys3308Glu
ENST00000683791.1:c.3089+8624A>G
ENST00000684460.1:c.7203A>G
ENST00000684548.1:c.9922A>G	ENSP00000507421.1:p.Lys3308Glu
ENST00000684590.1:c.4369A>G	ENSP00000507376.1:p.Lys1457Glu
ENST00000684656.1:c.7248A>G
ENST00000613296.6:c.10303A>G MANE Select	ENSP00000482968.1:p.Lys3435Glu
ENST00000651057.1:c.457A>G	ENSP00000498504.1:p.Lys153Glu
ENST00000651434.1:c.1659A>G
ENST00000652487.1:c.1400A>G
ENST00000423048.5:c.3794A>G	ENSP00000399833.1:n.3794A>G
ENST00000484298.5:c.10177A>G	ENSP00000478155.1:p.Lys3393Glu
ENST00000613296.4:c.10303A>G	ENSP00000482968.1:p.Lys3435Glu
ENST00000614410.4:c.10303A>G	ENSP00000479094.1:p.Lys3435Glu
ENST00000620466.4:n.4106A>G
NM_015120.4:c.10306A>G , LRG_741t1:c.10306A>G	NP_055935.4:p.Lys3436Glu
NM_001378454.1:c.10303A>G MANE Select	NP_001365383.1:p.Lys3435Glu