Canonical Allele Identifier: CA347265390

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1459237
• ClinVar RCV Id: RCV001958906
• dbSNP Id: rs1332287946
• MyVariant Identifiers: chr2:g.73828331G>A (hg19) ; chr2:g.73601204G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601204G>A , CM000664.2:g.73601204G>A	GRCh38
NC_000002.11:g.73828331G>A , CM000664.1:g.73828331G>A	GRCh37
NC_000002.10:g.73681839G>A	NCBI36
NG_011690.1:g.220452G>A , LRG_741:g.220452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11501G>A	ENSP00000507671.1:p.Trp3834Ter
ENST00000682801.1:c.11167-981G>A	ENSP00000507862.1:n.11167-981G>A
ENST00000682859.1:c.11501G>A	ENSP00000508222.1:p.Trp3834Ter
ENST00000683791.1:c.4587G>A
ENST00000684460.1:c.8782G>A
ENST00000684548.1:c.11501G>A	ENSP00000507421.1:p.Trp3834Ter
ENST00000684590.1:c.5948G>A	ENSP00000507376.1:p.Trp1983Ter
ENST00000684656.1:c.8966G>A
ENST00000613296.6:c.11882G>A MANE Select	ENSP00000482968.1:p.Trp3961Ter
ENST00000651057.1:c.2036G>A	ENSP00000498504.1:p.Trp679Ter
ENST00000651434.1:c.3238G>A
ENST00000651750.1:c.1260+323G>A
ENST00000652487.1:c.3053G>A
ENST00000464408.3:n.57G>A
ENST00000484298.5:c.11756G>A	ENSP00000478155.1:p.Trp3919Ter
ENST00000613296.4:c.11882G>A	ENSP00000482968.1:p.Trp3961Ter
ENST00000620466.4:n.5685G>A
NM_015120.4:c.11885G>A , LRG_741t1:c.11885G>A	NP_055935.4:p.Trp3962Ter
NM_001378454.1:c.11882G>A MANE Select	NP_001365383.1:p.Trp3961Ter