Canonical Allele Identifier: CA347266739

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 529394
• ClinVar RCV Id: RCV000634806 ; RCV002420703
• dbSNP Id: rs1213279792
• gnomAD v2: 2-73717069-A-T
• gnomAD v4: 2-73489942-A-T
• MyVariant Identifiers: chr2:g.73717069A>T (hg19) ; chr2:g.73489942A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489942A>T , CM000664.2:g.73489942A>T	GRCh38
NC_000002.11:g.73717069A>T , CM000664.1:g.73717069A>T	GRCh37
NC_000002.10:g.73570577A>T	NCBI36
NG_011690.1:g.109190A>T , LRG_741:g.109190A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7602A>T	ENSP00000507671.1:p.Glu2534Asp
ENST00000682801.1:c.7602A>T	ENSP00000507862.1:p.Glu2534Asp
ENST00000682859.1:c.7602A>T	ENSP00000508222.1:p.Glu2534Asp
ENST00000683791.1:c.994A>T
ENST00000684460.1:c.5054A>T
ENST00000684548.1:c.7602A>T	ENSP00000507421.1:p.Glu2534Asp
ENST00000684590.1:c.2049A>T	ENSP00000507376.1:p.Glu683Asp
ENST00000684656.1:c.5054A>T
ENST00000613296.6:c.7983A>T MANE Select	ENSP00000482968.1:p.Glu2661Asp
ENST00000651434.1:c.896-29833A>T
ENST00000423048.5:c.2814A>T	ENSP00000399833.1:p.Glu938Asp
ENST00000484298.5:c.7857A>T	ENSP00000478155.1:p.Glu2619Asp
ENST00000613296.4:c.7983A>T	ENSP00000482968.1:p.Glu2661Asp
ENST00000614410.4:c.7983A>T	ENSP00000479094.1:p.Glu2661Asp
ENST00000620466.4:n.1786A>T
NM_015120.4:c.7986A>T , LRG_741t1:c.7986A>T	NP_055935.4:p.Glu2662Asp
NM_001378454.1:c.7983A>T MANE Select	NP_001365383.1:p.Glu2661Asp