Canonical Allele Identifier: CA426765716

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1979411
• ClinVar RCV Id: RCV002780008
• dbSNP Id: rs1672934978
• gnomAD v4: 2-73489756-A-G
• MyVariant Identifiers: chr2:g.73716883A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489756A>G , CM000664.2:g.73489756A>G	GRCh38
NC_000002.11:g.73716883A>G , CM000664.1:g.73716883A>G	GRCh37
NC_000002.10:g.73570391A>G	NCBI36
NG_011690.1:g.109004A>G , LRG_741:g.109004A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7416A>G	ENSP00000507671.1:p.Arg2472=
ENST00000682801.1:c.7416A>G	ENSP00000507862.1:p.Arg2472=
ENST00000682859.1:c.7416A>G	ENSP00000508222.1:p.Arg2472=
ENST00000683791.1:c.808A>G
ENST00000684460.1:c.4868A>G
ENST00000684548.1:c.7416A>G	ENSP00000507421.1:p.Arg2472=
ENST00000684590.1:c.1863A>G	ENSP00000507376.1:p.Arg621=
ENST00000684656.1:c.4868A>G
ENST00000613296.6:c.7797A>G MANE Select	ENSP00000482968.1:p.Arg2599=
ENST00000651434.1:c.896-30019A>G
ENST00000423048.5:c.2628A>G	ENSP00000399833.1:p.Arg876=
ENST00000484298.5:c.7671A>G	ENSP00000478155.1:p.Arg2557=
ENST00000613296.4:c.7797A>G	ENSP00000482968.1:p.Arg2599=
ENST00000614410.4:c.7797A>G	ENSP00000479094.1:p.Arg2599=
ENST00000620466.4:n.1600A>G
NM_015120.4:c.7800A>G , LRG_741t1:c.7800A>G	NP_055935.4:p.Arg2600=
NM_001378454.1:c.7797A>G MANE Select	NP_001365383.1:p.Arg2599=