Canonical Allele Identifier: CA347266367

Gene: ALMS1

Linked Data

• MyVariant Identifiers: chr2:g.73828457A>G (hg19) ; chr2:g.73601330A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601330A>G , CM000664.2:g.73601330A>G	GRCh38
NC_000002.11:g.73828457A>G , CM000664.1:g.73828457A>G	GRCh37
NC_000002.10:g.73681965A>G	NCBI36
NG_011690.1:g.220578A>G , LRG_741:g.220578A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.11627A>G	ENSP00000507671.1:p.Glu3876Gly
ENST00000682801.1:c.11167-855A>G	ENSP00000507862.1:n.11167-855A>G
ENST00000682859.1:c.11627A>G	ENSP00000508222.1:p.Glu3876Gly
ENST00000683791.1:c.4713A>G
ENST00000684460.1:c.8908A>G
ENST00000684548.1:c.11627A>G	ENSP00000507421.1:p.Glu3876Gly
ENST00000684590.1:c.6074A>G	ENSP00000507376.1:p.Glu2025Gly
ENST00000684656.1:c.9092A>G
ENST00000613296.6:c.12008A>G MANE Select	ENSP00000482968.1:p.Glu4003Gly
ENST00000651057.1:c.2162A>G	ENSP00000498504.1:p.Glu721Gly
ENST00000651434.1:c.3364A>G
ENST00000651750.1:c.1260+449A>G
ENST00000652487.1:c.3179A>G
ENST00000464408.3:n.183A>G
ENST00000484298.5:c.11882A>G	ENSP00000478155.1:p.Glu3961Gly
ENST00000613296.4:c.12008A>G	ENSP00000482968.1:p.Glu4003Gly
ENST00000620466.4:n.5811A>G
NM_015120.4:c.12011A>G , LRG_741t1:c.12011A>G	NP_055935.4:p.Glu4004Gly
NM_001378454.1:c.12008A>G MANE Select	NP_001365383.1:p.Glu4003Gly