Canonical Allele Identifier: CA16604395

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 391548
• ClinVar RCV Id: RCV000421465 ; RCV001828446
• dbSNP Id: rs1057524132
• gnomAD v4: 2-73601435-A-G
• MyVariant Identifiers: chr2:g.73828562A>G (hg19) ; chr2:g.73601435A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601435A>G , CM000664.2:g.73601435A>G	GRCh38
NC_000002.11:g.73828562A>G , CM000664.1:g.73828562A>G	GRCh37
NC_000002.10:g.73682070A>G	NCBI36
NG_011690.1:g.220683A>G , LRG_741:g.220683A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11732A>G	ENSP00000507671.1:p.Gln3911Arg
ENST00000682801.1:c.11167-750A>G	ENSP00000507862.1:n.11167-750A>G
ENST00000682859.1:c.11732A>G	ENSP00000508222.1:p.Gln3911Arg
ENST00000683791.1:c.4818A>G
ENST00000684460.1:c.9013A>G
ENST00000684548.1:c.11732A>G	ENSP00000507421.1:p.Gln3911Arg
ENST00000684590.1:c.6179A>G	ENSP00000507376.1:p.Gln2060Arg
ENST00000684656.1:c.9197A>G
ENST00000613296.6:c.12113A>G MANE Select	ENSP00000482968.1:p.Gln4038Arg
ENST00000651057.1:c.2267A>G	ENSP00000498504.1:p.Gln756Arg
ENST00000651434.1:c.3469A>G
ENST00000651750.1:c.1260+554A>G
ENST00000652487.1:c.3284A>G
ENST00000464408.3:n.288A>G
ENST00000484298.5:c.11987A>G	ENSP00000478155.1:p.Gln3996Arg
ENST00000613296.4:c.12113A>G	ENSP00000482968.1:p.Gln4038Arg
ENST00000620466.4:n.5916A>G
NM_015120.4:c.12116A>G , LRG_741t1:c.12116A>G	NP_055935.4:p.Gln4039Arg
NM_001378454.1:c.12113A>G MANE Select	NP_001365383.1:p.Gln4038Arg