Canonical Allele Identifier: CA347282852

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799443C>A (hg19) ; chr2:g.73572316C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10058C>A	ENSP00000507671.1:p.Ala3353Glu
ENST00000682801.1:c.10058C>A	ENSP00000507862.1:p.Ala3353Glu
ENST00000682859.1:c.10058C>A	ENSP00000508222.1:p.Ala3353Glu
ENST00000683791.1:c.3144C>A
ENST00000684460.1:c.7339C>A
ENST00000684548.1:c.10058C>A	ENSP00000507421.1:p.Ala3353Glu
ENST00000684590.1:c.4505C>A	ENSP00000507376.1:p.Ala1502Glu
ENST00000684656.1:c.7384C>A
ENST00000613296.6:c.10439C>A MANE Select	ENSP00000482968.1:p.Ala3480Glu
ENST00000651057.1:c.593C>A	ENSP00000498504.1:p.Ala198Glu
ENST00000651434.1:c.1795C>A
ENST00000652487.1:c.1536C>A
ENST00000423048.5:c.3930C>A	ENSP00000399833.1:n.3930C>A
ENST00000484298.5:c.10313C>A	ENSP00000478155.1:p.Ala3438Glu
ENST00000613296.4:c.10439C>A	ENSP00000482968.1:p.Ala3480Glu
ENST00000614410.4:c.10439C>A	ENSP00000479094.1:p.Ala3480Glu
ENST00000620466.4:n.4242C>A
NM_015120.4:c.10442C>A , LRG_741t1:c.10442C>A	NP_055935.4:p.Ala3481Glu
NM_001378454.1:c.10439C>A MANE Select	NP_001365383.1:p.Ala3480Glu