Canonical Allele Identifier: CA1714352

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1760652
• ClinVar RCV Id: RCV002409871 ; RCV003099749
• dbSNP Id: rs777914637
• ExAC: 2:73716878 G / T
• gnomAD v2: 2-73716878-G-T
• gnomAD v3: 2-73489751-G-T
• gnomAD v4: 2-73489751-G-T
• MyVariant Identifiers: chr2:g.73716878G>T (hg19) ; chr2:g.73489751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73489751G>T , CM000664.2:g.73489751G>T	GRCh38
NC_000002.11:g.73716878G>T , CM000664.1:g.73716878G>T	GRCh37
NC_000002.10:g.73570386G>T	NCBI36
NG_011690.1:g.108999G>T , LRG_741:g.108999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.7411G>T	ENSP00000507671.1:p.Asp2471Tyr
ENST00000682801.1:c.7411G>T	ENSP00000507862.1:p.Asp2471Tyr
ENST00000682859.1:c.7411G>T	ENSP00000508222.1:p.Asp2471Tyr
ENST00000683791.1:c.803G>T
ENST00000684460.1:c.4863G>T
ENST00000684548.1:c.7411G>T	ENSP00000507421.1:p.Asp2471Tyr
ENST00000684590.1:c.1858G>T	ENSP00000507376.1:p.Asp620Tyr
ENST00000684656.1:c.4863G>T
ENST00000613296.6:c.7792G>T MANE Select	ENSP00000482968.1:p.Asp2598Tyr
ENST00000651434.1:c.896-30024G>T
ENST00000423048.5:c.2623G>T	ENSP00000399833.1:p.Asp875Tyr
ENST00000484298.5:c.7666G>T	ENSP00000478155.1:p.Asp2556Tyr
ENST00000613296.4:c.7792G>T	ENSP00000482968.1:p.Asp2598Tyr
ENST00000614410.4:c.7792G>T	ENSP00000479094.1:p.Asp2598Tyr
ENST00000620466.4:n.1595G>T
NM_015120.4:c.7795G>T , LRG_741t1:c.7795G>T	NP_055935.4:p.Asp2599Tyr
NM_001378454.1:c.7792G>T MANE Select	NP_001365383.1:p.Asp2598Tyr