Canonical Allele Identifier: CA1714358

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 866741
• ClinVar RCV Id: RCV001075018 ; RCV001570668 ; RCV001833691 ; RCV003293869
• dbSNP Id: rs145383239
• ExAC: 2:73716932 C / T
• gnomAD v2: 2-73716932-C-T
• gnomAD v3: 2-73489805-C-T
• gnomAD v4: 2-73489805-C-T
• MyVariant Identifiers: chr2:g.73716932C>T (hg19) ; chr2:g.73489805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489805C>T , CM000664.2:g.73489805C>T	GRCh38
NC_000002.11:g.73716932C>T , CM000664.1:g.73716932C>T	GRCh37
NC_000002.10:g.73570440C>T	NCBI36
NG_011690.1:g.109053C>T , LRG_741:g.109053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7465C>T	ENSP00000507671.1:p.Arg2489Trp
ENST00000682801.1:c.7465C>T	ENSP00000507862.1:p.Arg2489Trp
ENST00000682859.1:c.7465C>T	ENSP00000508222.1:p.Arg2489Trp
ENST00000683791.1:c.857C>T
ENST00000684460.1:c.4917C>T
ENST00000684548.1:c.7465C>T	ENSP00000507421.1:p.Arg2489Trp
ENST00000684590.1:c.1912C>T	ENSP00000507376.1:p.Arg638Trp
ENST00000684656.1:c.4917C>T
ENST00000613296.6:c.7846C>T MANE Select	ENSP00000482968.1:p.Arg2616Trp
ENST00000651434.1:c.896-29970C>T
ENST00000423048.5:c.2677C>T	ENSP00000399833.1:p.Arg893Trp
ENST00000484298.5:c.7720C>T	ENSP00000478155.1:p.Arg2574Trp
ENST00000613296.4:c.7846C>T	ENSP00000482968.1:p.Arg2616Trp
ENST00000614410.4:c.7846C>T	ENSP00000479094.1:p.Arg2616Trp
ENST00000620466.4:n.1649C>T
NM_015120.4:c.7849C>T , LRG_741t1:c.7849C>T	NP_055935.4:p.Arg2617Trp
NM_001378454.1:c.7846C>T MANE Select	NP_001365383.1:p.Arg2616Trp