Canonical Allele Identifier: CA347286522

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1009675
• ClinVar RCV Id: RCV001307194
• dbSNP Id: rs1674968038
• MyVariant Identifiers: chr2:g.73799970G>A (hg19) ; chr2:g.73572843G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572843G>A , CM000664.2:g.73572843G>A	GRCh38
NC_000002.11:g.73799970G>A , CM000664.1:g.73799970G>A	GRCh37
NC_000002.10:g.73653478G>A	NCBI36
NG_011690.1:g.192091G>A , LRG_741:g.192091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10585G>A	ENSP00000507671.1:p.Gly3529Arg
ENST00000682801.1:c.10585G>A	ENSP00000507862.1:p.Gly3529Arg
ENST00000682859.1:c.10585G>A	ENSP00000508222.1:p.Gly3529Arg
ENST00000683791.1:c.3671G>A
ENST00000684460.1:c.7866G>A
ENST00000684548.1:c.10585G>A	ENSP00000507421.1:p.Gly3529Arg
ENST00000684590.1:c.5032G>A	ENSP00000507376.1:p.Gly1678Arg
ENST00000684656.1:c.7911G>A
ENST00000613296.6:c.10966G>A MANE Select	ENSP00000482968.1:p.Gly3656Arg
ENST00000651057.1:c.1120G>A	ENSP00000498504.1:p.Gly374Arg
ENST00000651434.1:c.2322G>A
ENST00000651750.1:c.354G>A
ENST00000652487.1:c.2063G>A
ENST00000423048.5:c.4457G>A	ENSP00000399833.1:n.4457G>A
ENST00000484298.5:c.10840G>A	ENSP00000478155.1:p.Gly3614Arg
ENST00000613296.4:c.10966G>A	ENSP00000482968.1:p.Gly3656Arg
ENST00000614410.4:c.10966G>A	ENSP00000479094.1:p.Gly3656Arg
ENST00000620466.4:n.4769G>A
NM_015120.4:c.10969G>A , LRG_741t1:c.10969G>A	NP_055935.4:p.Gly3657Arg
NM_001378454.1:c.10966G>A MANE Select	NP_001365383.1:p.Gly3656Arg