Canonical Allele Identifier: CA1715094

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 550072
• ClinVar RCV Id: RCV000664700 ; RCV001561662 ; RCV003163055
• dbSNP Id: rs781344338
• ExAC: 2:73799977 G / A
• gnomAD v2: 2-73799977-G-A
• gnomAD v3: 2-73572850-G-A
• gnomAD v4: 2-73572850-G-A
• MyVariant Identifiers: chr2:g.73799977G>A (hg19) ; chr2:g.73572850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572850G>A , CM000664.2:g.73572850G>A	GRCh38
NC_000002.11:g.73799977G>A , CM000664.1:g.73799977G>A	GRCh37
NC_000002.10:g.73653485G>A	NCBI36
NG_011690.1:g.192098G>A , LRG_741:g.192098G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10592G>A	ENSP00000507671.1:p.Arg3531Gln
ENST00000682801.1:c.10592G>A	ENSP00000507862.1:p.Arg3531Gln
ENST00000682859.1:c.10592G>A	ENSP00000508222.1:p.Arg3531Gln
ENST00000683791.1:c.3678G>A
ENST00000684460.1:c.7873G>A
ENST00000684548.1:c.10592G>A	ENSP00000507421.1:p.Arg3531Gln
ENST00000684590.1:c.5039G>A	ENSP00000507376.1:p.Arg1680Gln
ENST00000684656.1:c.7918G>A
ENST00000613296.6:c.10973G>A MANE Select	ENSP00000482968.1:p.Arg3658Gln
ENST00000651057.1:c.1127G>A	ENSP00000498504.1:p.Arg376Gln
ENST00000651434.1:c.2329G>A
ENST00000651750.1:c.361G>A
ENST00000652487.1:c.2070G>A
ENST00000423048.5:c.4464G>A	ENSP00000399833.1:n.4464G>A
ENST00000484298.5:c.10847G>A	ENSP00000478155.1:p.Arg3616Gln
ENST00000613296.4:c.10973G>A	ENSP00000482968.1:p.Arg3658Gln
ENST00000614410.4:c.10973G>A	ENSP00000479094.1:p.Arg3658Gln
ENST00000620466.4:n.4776G>A
NM_015120.4:c.10976G>A , LRG_741t1:c.10976G>A	NP_055935.4:p.Arg3659Gln
NM_001378454.1:c.10973G>A MANE Select	NP_001365383.1:p.Arg3658Gln