Canonical Allele Identifier: CA347286718

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799996T>G (hg19) ; chr2:g.73572869T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572869T>G , CM000664.2:g.73572869T>G	GRCh38
NC_000002.11:g.73799996T>G , CM000664.1:g.73799996T>G	GRCh37
NC_000002.10:g.73653504T>G	NCBI36
NG_011690.1:g.192117T>G , LRG_741:g.192117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10611T>G	ENSP00000507671.1:p.Ser3537Arg
ENST00000682801.1:c.10611T>G	ENSP00000507862.1:p.Ser3537Arg
ENST00000682859.1:c.10611T>G	ENSP00000508222.1:p.Ser3537Arg
ENST00000683791.1:c.3697T>G
ENST00000684460.1:c.7892T>G
ENST00000684548.1:c.10611T>G	ENSP00000507421.1:p.Ser3537Arg
ENST00000684590.1:c.5058T>G	ENSP00000507376.1:p.Ser1686Arg
ENST00000684656.1:c.7937T>G
ENST00000613296.6:c.10992T>G MANE Select	ENSP00000482968.1:p.Ser3664Arg
ENST00000651057.1:c.1146T>G	ENSP00000498504.1:p.Ser382Arg
ENST00000651434.1:c.2348T>G
ENST00000651750.1:c.380T>G
ENST00000652487.1:c.2089T>G
ENST00000423048.5:c.4483T>G	ENSP00000399833.1:n.4483T>G
ENST00000484298.5:c.10866T>G	ENSP00000478155.1:p.Ser3622Arg
ENST00000613296.4:c.10992T>G	ENSP00000482968.1:p.Ser3664Arg
ENST00000614410.4:c.10992T>G	ENSP00000479094.1:p.Ser3664Arg
ENST00000620466.4:n.4795T>G
NM_015120.4:c.10995T>G , LRG_741t1:c.10995T>G	NP_055935.4:p.Ser3665Arg
NM_001378454.1:c.10992T>G MANE Select	NP_001365383.1:p.Ser3664Arg