Canonical Allele Identifier: CA347267291

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73601434-C-G
• MyVariant Identifiers: chr2:g.73828561C>G (hg19) ; chr2:g.73601434C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601434C>G , CM000664.2:g.73601434C>G	GRCh38
NC_000002.11:g.73828561C>G , CM000664.1:g.73828561C>G	GRCh37
NC_000002.10:g.73682069C>G	NCBI36
NG_011690.1:g.220682C>G , LRG_741:g.220682C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11731C>G	ENSP00000507671.1:p.Gln3911Glu
ENST00000682801.1:c.11167-751C>G	ENSP00000507862.1:n.11167-751C>G
ENST00000682859.1:c.11731C>G	ENSP00000508222.1:p.Gln3911Glu
ENST00000683791.1:c.4817C>G
ENST00000684460.1:c.9012C>G
ENST00000684548.1:c.11731C>G	ENSP00000507421.1:p.Gln3911Glu
ENST00000684590.1:c.6178C>G	ENSP00000507376.1:p.Gln2060Glu
ENST00000684656.1:c.9196C>G
ENST00000613296.6:c.12112C>G MANE Select	ENSP00000482968.1:p.Gln4038Glu
ENST00000651057.1:c.2266C>G	ENSP00000498504.1:p.Gln756Glu
ENST00000651434.1:c.3468C>G
ENST00000651750.1:c.1260+553C>G
ENST00000652487.1:c.3283C>G
ENST00000464408.3:n.287C>G
ENST00000484298.5:c.11986C>G	ENSP00000478155.1:p.Gln3996Glu
ENST00000613296.4:c.12112C>G	ENSP00000482968.1:p.Gln4038Glu
ENST00000620466.4:n.5915C>G
NM_015120.4:c.12115C>G , LRG_741t1:c.12115C>G	NP_055935.4:p.Gln4039Glu
NM_001378454.1:c.12112C>G MANE Select	NP_001365383.1:p.Gln4038Glu