Canonical Allele Identifier: CA1715104

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 384519
• ClinVar RCV Id: RCV000437171 ; RCV000665868 ; RCV002429400
• dbSNP Id: rs766771102
• ExAC: 2:73800036 C / T
• gnomAD v2: 2-73800036-C-T
• gnomAD v3: 2-73572909-C-T
• gnomAD v4: 2-73572909-C-T
• MyVariant Identifiers: chr2:g.73800036C>T (hg19) ; chr2:g.73572909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572909C>T , CM000664.2:g.73572909C>T	GRCh38
NC_000002.11:g.73800036C>T , CM000664.1:g.73800036C>T	GRCh37
NC_000002.10:g.73653544C>T	NCBI36
NG_011690.1:g.192157C>T , LRG_741:g.192157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10651C>T	ENSP00000507671.1:p.Arg3551Trp
ENST00000682801.1:c.10651C>T	ENSP00000507862.1:p.Arg3551Trp
ENST00000682859.1:c.10651C>T	ENSP00000508222.1:p.Arg3551Trp
ENST00000683791.1:c.3737C>T
ENST00000684460.1:c.7932C>T
ENST00000684548.1:c.10651C>T	ENSP00000507421.1:p.Arg3551Trp
ENST00000684590.1:c.5098C>T	ENSP00000507376.1:p.Arg1700Trp
ENST00000684656.1:c.7977C>T
ENST00000613296.6:c.11032C>T MANE Select	ENSP00000482968.1:p.Arg3678Trp
ENST00000651057.1:c.1186C>T	ENSP00000498504.1:p.Arg396Trp
ENST00000651434.1:c.2388C>T
ENST00000651750.1:c.420C>T
ENST00000652487.1:c.2129C>T
ENST00000423048.5:c.4523C>T	ENSP00000399833.1:n.4523C>T
ENST00000484298.5:c.10906C>T	ENSP00000478155.1:p.Arg3636Trp
ENST00000613296.4:c.11032C>T	ENSP00000482968.1:p.Arg3678Trp
ENST00000614410.4:c.11032C>T	ENSP00000479094.1:p.Arg3678Trp
ENST00000620466.4:n.4835C>T
NM_015120.4:c.11035C>T , LRG_741t1:c.11035C>T	NP_055935.4:p.Arg3679Trp
NM_001378454.1:c.11032C>T MANE Select	NP_001365383.1:p.Arg3678Trp