Canonical Allele Identifier: CA1714333

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 2089608
• ClinVar RCV Id: RCV003020504
• dbSNP Id: rs748760764
• ExAC: 2:73716821 A / T
• gnomAD v2: 2-73716821-A-T
• gnomAD v3: 2-73489694-A-T
• gnomAD v4: 2-73489694-A-T
• MyVariant Identifiers: chr2:g.73716821A>T (hg19) ; chr2:g.73489694A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489694A>T , CM000664.2:g.73489694A>T	GRCh38
NC_000002.11:g.73716821A>T , CM000664.1:g.73716821A>T	GRCh37
NC_000002.10:g.73570329A>T	NCBI36
NG_011690.1:g.108942A>T , LRG_741:g.108942A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7354A>T	ENSP00000507671.1:p.Ile2452Phe
ENST00000682801.1:c.7354A>T	ENSP00000507862.1:p.Ile2452Phe
ENST00000682859.1:c.7354A>T	ENSP00000508222.1:p.Ile2452Phe
ENST00000683791.1:c.746A>T
ENST00000684460.1:c.4806A>T
ENST00000684548.1:c.7354A>T	ENSP00000507421.1:p.Ile2452Phe
ENST00000684590.1:c.1801A>T	ENSP00000507376.1:p.Ile601Phe
ENST00000684656.1:c.4806A>T
ENST00000613296.6:c.7735A>T MANE Select	ENSP00000482968.1:p.Ile2579Phe
ENST00000651434.1:c.896-30081A>T
ENST00000423048.5:c.2566A>T	ENSP00000399833.1:p.Ile856Phe
ENST00000484298.5:c.7609A>T	ENSP00000478155.1:p.Ile2537Phe
ENST00000613296.4:c.7735A>T	ENSP00000482968.1:p.Ile2579Phe
ENST00000614410.4:c.7735A>T	ENSP00000479094.1:p.Ile2579Phe
ENST00000620466.4:n.1538A>T
NM_015120.4:c.7738A>T , LRG_741t1:c.7738A>T	NP_055935.4:p.Ile2580Phe
NM_001378454.1:c.7735A>T MANE Select	NP_001365383.1:p.Ile2579Phe