Canonical Allele Identifier: CA1715098

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1424840
• ClinVar RCV Id: RCV001924074
• dbSNP Id: rs748921342
• ExAC: 2:73799991 T / G
• gnomAD v2: 2-73799991-T-G
• gnomAD v4: 2-73572864-T-G
• MyVariant Identifiers: chr2:g.73799991T>G (hg19) ; chr2:g.73572864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572864T>G , CM000664.2:g.73572864T>G	GRCh38
NC_000002.11:g.73799991T>G , CM000664.1:g.73799991T>G	GRCh37
NC_000002.10:g.73653499T>G	NCBI36
NG_011690.1:g.192112T>G , LRG_741:g.192112T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10606T>G	ENSP00000507671.1:p.Trp3536Gly
ENST00000682801.1:c.10606T>G	ENSP00000507862.1:p.Trp3536Gly
ENST00000682859.1:c.10606T>G	ENSP00000508222.1:p.Trp3536Gly
ENST00000683791.1:c.3692T>G
ENST00000684460.1:c.7887T>G
ENST00000684548.1:c.10606T>G	ENSP00000507421.1:p.Trp3536Gly
ENST00000684590.1:c.5053T>G	ENSP00000507376.1:p.Trp1685Gly
ENST00000684656.1:c.7932T>G
ENST00000613296.6:c.10987T>G MANE Select	ENSP00000482968.1:p.Trp3663Gly
ENST00000651057.1:c.1141T>G	ENSP00000498504.1:p.Trp381Gly
ENST00000651434.1:c.2343T>G
ENST00000651750.1:c.375T>G
ENST00000652487.1:c.2084T>G
ENST00000423048.5:c.4478T>G	ENSP00000399833.1:n.4478T>G
ENST00000484298.5:c.10861T>G	ENSP00000478155.1:p.Trp3621Gly
ENST00000613296.4:c.10987T>G	ENSP00000482968.1:p.Trp3663Gly
ENST00000614410.4:c.10987T>G	ENSP00000479094.1:p.Trp3663Gly
ENST00000620466.4:n.4790T>G
NM_015120.4:c.10990T>G , LRG_741t1:c.10990T>G	NP_055935.4:p.Trp3664Gly
NM_001378454.1:c.10987T>G MANE Select	NP_001365383.1:p.Trp3663Gly