Canonical Allele Identifier: CA347286445

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73799960T>G (hg19) ; chr2:g.73572833T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73572833T>G , CM000664.2:g.73572833T>G	GRCh38
NC_000002.11:g.73799960T>G , CM000664.1:g.73799960T>G	GRCh37
NC_000002.10:g.73653468T>G	NCBI36
NG_011690.1:g.192081T>G , LRG_741:g.192081T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.10575T>G	ENSP00000507671.1:p.Asp3525Glu
ENST00000682801.1:c.10575T>G	ENSP00000507862.1:p.Asp3525Glu
ENST00000682859.1:c.10575T>G	ENSP00000508222.1:p.Asp3525Glu
ENST00000683791.1:c.3661T>G
ENST00000684460.1:c.7856T>G
ENST00000684548.1:c.10575T>G	ENSP00000507421.1:p.Asp3525Glu
ENST00000684590.1:c.5022T>G	ENSP00000507376.1:p.Asp1674Glu
ENST00000684656.1:c.7901T>G
ENST00000613296.6:c.10956T>G MANE Select	ENSP00000482968.1:p.Asp3652Glu
ENST00000651057.1:c.1110T>G	ENSP00000498504.1:p.Asp370Glu
ENST00000651434.1:c.2312T>G
ENST00000651750.1:c.344T>G
ENST00000652487.1:c.2053T>G
ENST00000423048.5:c.4447T>G	ENSP00000399833.1:n.4447T>G
ENST00000484298.5:c.10830T>G	ENSP00000478155.1:p.Asp3610Glu
ENST00000613296.4:c.10956T>G	ENSP00000482968.1:p.Asp3652Glu
ENST00000614410.4:c.10956T>G	ENSP00000479094.1:p.Asp3652Glu
ENST00000620466.4:n.4759T>G
NM_015120.4:c.10959T>G , LRG_741t1:c.10959T>G	NP_055935.4:p.Asp3653Glu
NM_001378454.1:c.10956T>G MANE Select	NP_001365383.1:p.Asp3652Glu