Canonical Allele Identifier: CA349503

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 221018
• ClinVar RCV Id: RCV000224355 ; RCV000424132 ; RCV000445509 ; RCV001082986 ; RCV002363032
• dbSNP Id: rs11889925
• ExAC: 2:73650009 C / A
• gnomAD v2: 2-73650009-C-A
• gnomAD v3: 2-73422881-C-A
• gnomAD v4: 2-73422881-C-A
• MyVariant Identifiers: chr2:g.73650009C>A (hg19) ; chr2:g.73422881C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73422881C>A , CM000664.2:g.73422881C>A	GRCh38
NC_000002.11:g.73650009C>A , CM000664.1:g.73650009C>A	GRCh37
NC_000002.10:g.73503517C>A	NCBI36
NG_011690.1:g.42127C>A , LRG_741:g.42127C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.221C>A	ENSP00000507671.1:p.Pro74His
ENST00000682675.1:n.631C>A
ENST00000682801.1:c.221C>A	ENSP00000507862.1:p.Pro74His
ENST00000682859.1:c.221C>A	ENSP00000508222.1:p.Pro74His
ENST00000682889.1:n.636C>A
ENST00000683791.1:c.25C>A
ENST00000684548.1:c.221C>A	ENSP00000507421.1:p.Pro74His
ENST00000613296.6:c.671C>A MANE Select	ENSP00000482968.1:p.Pro224His
ENST00000484298.5:c.545C>A	ENSP00000478155.1:p.Pro182His
ENST00000613296.4:c.671C>A	ENSP00000482968.1:p.Pro224His
ENST00000614410.4:c.671C>A	ENSP00000479094.1:p.Pro224His
NM_015120.4:c.674C>A , LRG_741t1:c.674C>A	NP_055935.4:p.Pro225His
NM_001378454.1:c.671C>A MANE Select	NP_001365383.1:p.Pro224His