Canonical Allele Identifier: CA347283180

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 3020471
• ClinVar RCV Id: RCV003877646
• gnomAD v4: 2-73572367-G-A
• MyVariant Identifiers: chr2:g.73799494G>A (hg19) ; chr2:g.73572367G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572367G>A , CM000664.2:g.73572367G>A	GRCh38
NC_000002.11:g.73799494G>A , CM000664.1:g.73799494G>A	GRCh37
NC_000002.10:g.73653002G>A	NCBI36
NG_011690.1:g.191615G>A , LRG_741:g.191615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10109G>A	ENSP00000507671.1:p.Cys3370Tyr
ENST00000682801.1:c.10109G>A	ENSP00000507862.1:p.Cys3370Tyr
ENST00000682859.1:c.10109G>A	ENSP00000508222.1:p.Cys3370Tyr
ENST00000683791.1:c.3195G>A
ENST00000684460.1:c.7390G>A
ENST00000684548.1:c.10109G>A	ENSP00000507421.1:p.Cys3370Tyr
ENST00000684590.1:c.4556G>A	ENSP00000507376.1:p.Cys1519Tyr
ENST00000684656.1:c.7435G>A
ENST00000613296.6:c.10490G>A MANE Select	ENSP00000482968.1:p.Cys3497Tyr
ENST00000651057.1:c.644G>A	ENSP00000498504.1:p.Cys215Tyr
ENST00000651434.1:c.1846G>A
ENST00000652487.1:c.1587G>A
ENST00000423048.5:c.3981G>A	ENSP00000399833.1:n.3981G>A
ENST00000484298.5:c.10364G>A	ENSP00000478155.1:p.Cys3455Tyr
ENST00000613296.4:c.10490G>A	ENSP00000482968.1:p.Cys3497Tyr
ENST00000614410.4:c.10490G>A	ENSP00000479094.1:p.Cys3497Tyr
ENST00000620466.4:n.4293G>A
NM_015120.4:c.10493G>A , LRG_741t1:c.10493G>A	NP_055935.4:p.Cys3498Tyr
NM_001378454.1:c.10490G>A MANE Select	NP_001365383.1:p.Cys3497Tyr