Canonical Allele Identifier: CA1714408

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1695491
• ClinVar RCV Id: RCV002265126 ; RCV002488659
• dbSNP Id: rs761242664
• ExAC: 2:73717212 A / G
• gnomAD v2: 2-73717212-A-G
• gnomAD v4: 2-73490085-A-G
• MyVariant Identifiers: chr2:g.73717212A>G (hg19) ; chr2:g.73490085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73490085A>G , CM000664.2:g.73490085A>G	GRCh38
NC_000002.11:g.73717212A>G , CM000664.1:g.73717212A>G	GRCh37
NC_000002.10:g.73570720A>G	NCBI36
NG_011690.1:g.109333A>G , LRG_741:g.109333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7745A>G	ENSP00000507671.1:p.Lys2582Arg
ENST00000682801.1:c.7745A>G	ENSP00000507862.1:p.Lys2582Arg
ENST00000682859.1:c.7745A>G	ENSP00000508222.1:p.Lys2582Arg
ENST00000683791.1:c.1137A>G
ENST00000684460.1:c.5197A>G
ENST00000684548.1:c.7745A>G	ENSP00000507421.1:p.Lys2582Arg
ENST00000684590.1:c.2192A>G	ENSP00000507376.1:p.Lys731Arg
ENST00000684656.1:c.5197A>G
ENST00000613296.6:c.8126A>G MANE Select	ENSP00000482968.1:p.Lys2709Arg
ENST00000651434.1:c.896-29690A>G
ENST00000423048.5:c.2957A>G	ENSP00000399833.1:p.Lys986Arg
ENST00000484298.5:c.8000A>G	ENSP00000478155.1:p.Lys2667Arg
ENST00000613296.4:c.8126A>G	ENSP00000482968.1:p.Lys2709Arg
ENST00000614410.4:c.8126A>G	ENSP00000479094.1:p.Lys2709Arg
ENST00000620466.4:n.1929A>G
NM_015120.4:c.8129A>G , LRG_741t1:c.8129A>G	NP_055935.4:p.Lys2710Arg
NM_001378454.1:c.8126A>G MANE Select	NP_001365383.1:p.Lys2709Arg