Canonical Allele Identifier: CA1715411

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601366G>A , CM000664.2:g.73601366G>A	GRCh38
NC_000002.11:g.73828493G>A , CM000664.1:g.73828493G>A	GRCh37
NC_000002.10:g.73682001G>A	NCBI36
NG_011690.1:g.220614G>A , LRG_741:g.220614G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.12044G>A MANE Select	NP_001365383.1:p.Gly4015Asp
ENST00000613296.6:c.12044G>A MANE Select	ENSP00000482968.1:p.Gly4015Asp
NM_015120.4:c.12047G>A , LRG_741t1:c.12047G>A	NP_055935.4:p.Gly4016Asp
ENST00000464408.3:n.219G>A
ENST00000484298.5:c.11918G>A	ENSP00000478155.1:p.Gly3973Asp
ENST00000613296.4:c.12044G>A	ENSP00000482968.1:p.Gly4015Asp
ENST00000620466.4:n.5847G>A
ENST00000651057.1:c.2198G>A	ENSP00000498504.1:p.Gly733Asp
ENST00000651434.1:c.3400G>A
ENST00000651750.1:c.1260+485G>A
ENST00000652487.1:c.3215G>A
ENST00000682565.1:c.11663G>A	ENSP00000507671.1:p.Gly3888Asp
ENST00000682801.1:c.11167-819G>A	ENSP00000507862.1:n.11167-819G>A
ENST00000682859.1:c.11663G>A	ENSP00000508222.1:p.Gly3888Asp
ENST00000683791.1:c.4749G>A
ENST00000684460.1:c.8944G>A
ENST00000684548.1:c.11663G>A	ENSP00000507421.1:p.Gly3888Asp
ENST00000684590.1:c.6110G>A	ENSP00000507376.1:p.Gly2037Asp
ENST00000684656.1:c.9128G>A