Canonical Allele Identifier: CA347266698

Gene: ALMS1

Linked Data

• ClinVar Variation Id: 1748301
• ClinVar RCV Id: RCV002351991
• dbSNP Id: rs200462734
• gnomAD v2: 2-73828493-G-T
• gnomAD v3: 2-73601366-G-T
• gnomAD v4: 2-73601366-G-T
• MyVariant Identifiers: chr2:g.73828493G>T (hg19) ; chr2:g.73601366G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601366G>T , CM000664.2:g.73601366G>T	GRCh38
NC_000002.11:g.73828493G>T , CM000664.1:g.73828493G>T	GRCh37
NC_000002.10:g.73682001G>T	NCBI36
NG_011690.1:g.220614G>T , LRG_741:g.220614G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11663G>T	ENSP00000507671.1:p.Gly3888Val
ENST00000682801.1:c.11167-819G>T	ENSP00000507862.1:n.11167-819G>T
ENST00000682859.1:c.11663G>T	ENSP00000508222.1:p.Gly3888Val
ENST00000683791.1:c.4749G>T
ENST00000684460.1:c.8944G>T
ENST00000684548.1:c.11663G>T	ENSP00000507421.1:p.Gly3888Val
ENST00000684590.1:c.6110G>T	ENSP00000507376.1:p.Gly2037Val
ENST00000684656.1:c.9128G>T
ENST00000613296.6:c.12044G>T MANE Select	ENSP00000482968.1:p.Gly4015Val
ENST00000651057.1:c.2198G>T	ENSP00000498504.1:p.Gly733Val
ENST00000651434.1:c.3400G>T
ENST00000651750.1:c.1260+485G>T
ENST00000652487.1:c.3215G>T
ENST00000464408.3:n.219G>T
ENST00000484298.5:c.11918G>T	ENSP00000478155.1:p.Gly3973Val
ENST00000613296.4:c.12044G>T	ENSP00000482968.1:p.Gly4015Val
ENST00000620466.4:n.5847G>T
NM_015120.4:c.12047G>T , LRG_741t1:c.12047G>T	NP_055935.4:p.Gly4016Val
NM_001378454.1:c.12044G>T MANE Select	NP_001365383.1:p.Gly4015Val