Canonical Allele Identifier: CA347283489

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799543T>G (hg19) ; chr2:g.73572416T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572416T>G , CM000664.2:g.73572416T>G	GRCh38
NC_000002.11:g.73799543T>G , CM000664.1:g.73799543T>G	GRCh37
NC_000002.10:g.73653051T>G	NCBI36
NG_011690.1:g.191664T>G , LRG_741:g.191664T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682565.1:c.10158T>G	ENSP00000507671.1:p.Asp3386Glu
ENST00000682801.1:c.10158T>G	ENSP00000507862.1:p.Asp3386Glu
ENST00000682859.1:c.10158T>G	ENSP00000508222.1:p.Asp3386Glu
ENST00000683791.1:c.3244T>G
ENST00000684460.1:c.7439T>G
ENST00000684548.1:c.10158T>G	ENSP00000507421.1:p.Asp3386Glu
ENST00000684590.1:c.4605T>G	ENSP00000507376.1:p.Asp1535Glu
ENST00000684656.1:c.7484T>G
ENST00000613296.6:c.10539T>G MANE Select	ENSP00000482968.1:p.Asp3513Glu
ENST00000651057.1:c.693T>G	ENSP00000498504.1:p.Asp231Glu
ENST00000651434.1:c.1895T>G
ENST00000652487.1:c.1636T>G
ENST00000423048.5:c.4030T>G	ENSP00000399833.1:n.4030T>G
ENST00000484298.5:c.10413T>G	ENSP00000478155.1:p.Asp3471Glu
ENST00000613296.4:c.10539T>G	ENSP00000482968.1:p.Asp3513Glu
ENST00000614410.4:c.10539T>G	ENSP00000479094.1:p.Asp3513Glu
ENST00000620466.4:n.4342T>G
NM_015120.4:c.10542T>G , LRG_741t1:c.10542T>G	NP_055935.4:p.Asp3514Glu
NM_001378454.1:c.10539T>G MANE Select	NP_001365383.1:p.Asp3513Glu