Canonical Allele Identifier: CA1713804

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 529389
• ClinVar RCV Id: RCV000634801 ; RCV001574746 ; RCV002334076
• dbSNP Id: rs199520788
• ExAC: 2:73678630 C / A
• gnomAD v2: 2-73678630-C-A
• gnomAD v3: 2-73451503-C-A
• gnomAD v4: 2-73451503-C-A
• MyVariant Identifiers: chr2:g.73678630C>A (hg19) ; chr2:g.73451503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73451503C>A , CM000664.2:g.73451503C>A	GRCh38
NC_000002.11:g.73678630C>A , CM000664.1:g.73678630C>A	GRCh37
NC_000002.10:g.73532138C>A	NCBI36
NG_011690.1:g.70751C>A , LRG_741:g.70751C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.4595C>A	ENSP00000507671.1:p.Pro1532Gln
ENST00000682801.1:c.4595C>A	ENSP00000507862.1:p.Pro1532Gln
ENST00000682859.1:c.4595C>A	ENSP00000508222.1:p.Pro1532Gln
ENST00000683791.1:c.685+19212C>A
ENST00000684460.1:c.2047C>A
ENST00000684548.1:c.4595C>A	ENSP00000507421.1:p.Pro1532Gln
ENST00000684656.1:c.2047C>A
ENST00000613296.6:c.4976C>A MANE Select	ENSP00000482968.1:p.Pro1659Gln
ENST00000484298.5:c.4850C>A	ENSP00000478155.1:p.Pro1617Gln
ENST00000613296.4:c.4976C>A	ENSP00000482968.1:p.Pro1659Gln
ENST00000614410.4:c.4976C>A	ENSP00000479094.1:p.Pro1659Gln
NM_015120.4:c.4979C>A , LRG_741t1:c.4979C>A	NP_055935.4:p.Pro1660Gln
NM_001378454.1:c.4976C>A MANE Select	NP_001365383.1:p.Pro1659Gln