Canonical Allele Identifier: CA1714385

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 459889
• ClinVar RCV Id: RCV000527768 ; RCV002420393
• dbSNP Id: rs762452929
• ExAC: 2:73717067 G / A
• gnomAD v2: 2-73717067-G-A
• gnomAD v3: 2-73489940-G-A
• gnomAD v4: 2-73489940-G-A
• MyVariant Identifiers: chr2:g.73717067G>A (hg19) ; chr2:g.73489940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489940G>A , CM000664.2:g.73489940G>A	GRCh38
NC_000002.11:g.73717067G>A , CM000664.1:g.73717067G>A	GRCh37
NC_000002.10:g.73570575G>A	NCBI36
NG_011690.1:g.109188G>A , LRG_741:g.109188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7600G>A	ENSP00000507671.1:p.Glu2534Lys
ENST00000682801.1:c.7600G>A	ENSP00000507862.1:p.Glu2534Lys
ENST00000682859.1:c.7600G>A	ENSP00000508222.1:p.Glu2534Lys
ENST00000683791.1:c.992G>A
ENST00000684460.1:c.5052G>A
ENST00000684548.1:c.7600G>A	ENSP00000507421.1:p.Glu2534Lys
ENST00000684590.1:c.2047G>A	ENSP00000507376.1:p.Glu683Lys
ENST00000684656.1:c.5052G>A
ENST00000613296.6:c.7981G>A MANE Select	ENSP00000482968.1:p.Glu2661Lys
ENST00000651434.1:c.896-29835G>A
ENST00000423048.5:c.2812G>A	ENSP00000399833.1:p.Glu938Lys
ENST00000484298.5:c.7855G>A	ENSP00000478155.1:p.Glu2619Lys
ENST00000613296.4:c.7981G>A	ENSP00000482968.1:p.Glu2661Lys
ENST00000614410.4:c.7981G>A	ENSP00000479094.1:p.Glu2661Lys
ENST00000620466.4:n.1784G>A
NM_015120.4:c.7984G>A , LRG_741t1:c.7984G>A	NP_055935.4:p.Glu2662Lys
NM_001378454.1:c.7981G>A MANE Select	NP_001365383.1:p.Glu2661Lys