Canonical Allele Identifier: CA347282854

Gene: ALMS1

Linked Data

• gnomAD v4: 2-73572316-C-G
• MyVariant Identifiers: chr2:g.73799443C>G (hg19) ; chr2:g.73572316C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572316C>G , CM000664.2:g.73572316C>G	GRCh38
NC_000002.11:g.73799443C>G , CM000664.1:g.73799443C>G	GRCh37
NC_000002.10:g.73652951C>G	NCBI36
NG_011690.1:g.191564C>G , LRG_741:g.191564C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10058C>G	ENSP00000507671.1:p.Ala3353Gly
ENST00000682801.1:c.10058C>G	ENSP00000507862.1:p.Ala3353Gly
ENST00000682859.1:c.10058C>G	ENSP00000508222.1:p.Ala3353Gly
ENST00000683791.1:c.3144C>G
ENST00000684460.1:c.7339C>G
ENST00000684548.1:c.10058C>G	ENSP00000507421.1:p.Ala3353Gly
ENST00000684590.1:c.4505C>G	ENSP00000507376.1:p.Ala1502Gly
ENST00000684656.1:c.7384C>G
ENST00000613296.6:c.10439C>G MANE Select	ENSP00000482968.1:p.Ala3480Gly
ENST00000651057.1:c.593C>G	ENSP00000498504.1:p.Ala198Gly
ENST00000651434.1:c.1795C>G
ENST00000652487.1:c.1536C>G
ENST00000423048.5:c.3930C>G	ENSP00000399833.1:n.3930C>G
ENST00000484298.5:c.10313C>G	ENSP00000478155.1:p.Ala3438Gly
ENST00000613296.4:c.10439C>G	ENSP00000482968.1:p.Ala3480Gly
ENST00000614410.4:c.10439C>G	ENSP00000479094.1:p.Ala3480Gly
ENST00000620466.4:n.4242C>G
NM_015120.4:c.10442C>G , LRG_741t1:c.10442C>G	NP_055935.4:p.Ala3481Gly
NM_001378454.1:c.10439C>G MANE Select	NP_001365383.1:p.Ala3480Gly