Canonical Allele Identifier: CA1714652

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 393378
• ClinVar RCV Id: RCV001552478 ; RCV000445473 ; RCV002374731 ; RCV000577939 ; RCV001193867
• dbSNP Id: rs200586877
• ExAC: 2:73718475 C / G
• gnomAD v2: 2-73718475-C-G
• gnomAD v3: 2-73491348-C-G
• gnomAD v4: 2-73491348-C-G
• MyVariant Identifiers: chr2:g.73718475C>G (hg19) ; chr2:g.73491348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491348C>G , CM000664.2:g.73491348C>G	GRCh38
NC_000002.11:g.73718475C>G , CM000664.1:g.73718475C>G	GRCh37
NC_000002.10:g.73571983C>G	NCBI36
NG_011690.1:g.110596C>G , LRG_741:g.110596C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.9008C>G	ENSP00000507671.1:p.Pro3003Arg
ENST00000682801.1:c.9008C>G	ENSP00000507862.1:p.Pro3003Arg
ENST00000682859.1:c.9008C>G	ENSP00000508222.1:p.Pro3003Arg
ENST00000683791.1:c.2400C>G
ENST00000684460.1:c.6460C>G
ENST00000684548.1:c.9008C>G	ENSP00000507421.1:p.Pro3003Arg
ENST00000684590.1:c.3455C>G	ENSP00000507376.1:p.Pro1152Arg
ENST00000684656.1:c.6460C>G
ENST00000613296.6:c.9389C>G MANE Select	ENSP00000482968.1:p.Pro3130Arg
ENST00000651434.1:c.896-28427C>G
ENST00000652487.1:c.486C>G
ENST00000423048.5:c.3030+1190C>G	ENSP00000399833.1:n.3030+1190C>G
ENST00000484298.5:c.9263C>G	ENSP00000478155.1:p.Pro3088Arg
ENST00000613296.4:c.9389C>G	ENSP00000482968.1:p.Pro3130Arg
ENST00000614410.4:c.9389C>G	ENSP00000479094.1:p.Pro3130Arg
ENST00000620466.4:n.3192C>G
NM_015120.4:c.9392C>G , LRG_741t1:c.9392C>G	NP_055935.4:p.Pro3131Arg
NM_001378454.1:c.9389C>G MANE Select	NP_001365383.1:p.Pro3130Arg