Canonical Allele Identifier: CA347286329

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1406459
• ClinVar RCV Id: RCV001935434
• dbSNP Id: rs397514576
• MyVariant Identifiers: chr2:g.73799946G>A (hg19) ; chr2:g.73572819G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572819G>A , CM000664.2:g.73572819G>A	GRCh38
NC_000002.11:g.73799946G>A , CM000664.1:g.73799946G>A	GRCh37
NC_000002.10:g.73653454G>A	NCBI36
NG_011690.1:g.192067G>A , LRG_741:g.192067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10561G>A	ENSP00000507671.1:p.Glu3521Lys
ENST00000682801.1:c.10561G>A	ENSP00000507862.1:p.Glu3521Lys
ENST00000682859.1:c.10561G>A	ENSP00000508222.1:p.Glu3521Lys
ENST00000683791.1:c.3647G>A
ENST00000684460.1:c.7842G>A
ENST00000684548.1:c.10561G>A	ENSP00000507421.1:p.Glu3521Lys
ENST00000684590.1:c.5008G>A	ENSP00000507376.1:p.Glu1670Lys
ENST00000684656.1:c.7887G>A
ENST00000613296.6:c.10942G>A MANE Select	ENSP00000482968.1:p.Glu3648Lys
ENST00000651057.1:c.1096G>A	ENSP00000498504.1:p.Glu366Lys
ENST00000651434.1:c.2298G>A
ENST00000651750.1:c.330G>A
ENST00000652487.1:c.2039G>A
ENST00000423048.5:c.4433G>A	ENSP00000399833.1:n.4433G>A
ENST00000484298.5:c.10816G>A	ENSP00000478155.1:p.Glu3606Lys
ENST00000613296.4:c.10942G>A	ENSP00000482968.1:p.Glu3648Lys
ENST00000614410.4:c.10942G>A	ENSP00000479094.1:p.Glu3648Lys
ENST00000620466.4:n.4745G>A
NM_015120.4:c.10945G>A , LRG_741t1:c.10945G>A	NP_055935.4:p.Glu3649Lys
NM_001378454.1:c.10942G>A MANE Select	NP_001365383.1:p.Glu3648Lys