Canonical Allele Identifier: CA252955
Gene: ALMS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3974
ClinVar RCV Id: RCV000004180
dbSNP Id: rs193919339

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73572866G>A , CM000664.2:g.73572866G>A GRCh38
NC_000002.11:g.73799993G>A , CM000664.1:g.73799993G>A GRCh37
NC_000002.10:g.73653501G>A NCBI36
NG_011690.1:g.192114G>A , LRG_741:g.192114G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682565.1:c.10608G>A ENSP00000507671.1:p.Trp3536Ter
ENST00000682801.1:c.10608G>A ENSP00000507862.1:p.Trp3536Ter
ENST00000682859.1:c.10608G>A ENSP00000508222.1:p.Trp3536Ter
ENST00000683791.1:c.3694G>A
ENST00000684460.1:c.7889G>A
ENST00000684548.1:c.10608G>A ENSP00000507421.1:p.Trp3536Ter
ENST00000684590.1:c.5055G>A ENSP00000507376.1:p.Trp1685Ter
ENST00000684656.1:c.7934G>A
ENST00000613296.6:c.10989G>A MANE Select ENSP00000482968.1:p.Trp3663Ter
ENST00000651057.1:c.1143G>A ENSP00000498504.1:p.Trp381Ter
ENST00000651434.1:c.2345G>A
ENST00000651750.1:c.377G>A
ENST00000652487.1:c.2086G>A
ENST00000423048.5:c.4480G>A ENSP00000399833.1:n.4480G>A
ENST00000484298.5:c.10863G>A ENSP00000478155.1:p.Trp3621Ter
ENST00000613296.4:c.10989G>A ENSP00000482968.1:p.Trp3663Ter
ENST00000614410.4:c.10989G>A ENSP00000479094.1:p.Trp3663Ter
ENST00000620466.4:n.4792G>A
NM_015120.4:c.10992G>A , LRG_741t1:c.10992G>A NP_055935.4:p.Trp3664Ter
NM_001378454.1:c.10989G>A MANE Select NP_001365383.1:p.Trp3663Ter