Canonical Allele Identifier: CA1714679

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491498G>A , CM000664.2:g.73491498G>A	GRCh38
NC_000002.11:g.73718625G>A , CM000664.1:g.73718625G>A	GRCh37
NC_000002.10:g.73572133G>A	NCBI36
NG_011690.1:g.110746G>A , LRG_741:g.110746G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9539G>A MANE Select	NP_001365383.1:p.Arg3180Gln
ENST00000613296.6:c.9539G>A MANE Select	ENSP00000482968.1:p.Arg3180Gln
NM_015120.4:c.9542G>A , LRG_741t1:c.9542G>A	NP_055935.4:p.Arg3181Gln
ENST00000423048.5:c.3030+1340G>A	ENSP00000399833.1:n.3030+1340G>A
ENST00000484298.5:c.9413G>A	ENSP00000478155.1:p.Arg3138Gln
ENST00000613296.4:c.9539G>A	ENSP00000482968.1:p.Arg3180Gln
ENST00000614410.4:c.9539G>A	ENSP00000479094.1:p.Arg3180Gln
ENST00000620466.4:n.3342G>A
ENST00000651434.1:c.896-28277G>A
ENST00000652487.1:c.636G>A
ENST00000682565.1:c.9158G>A	ENSP00000507671.1:p.Arg3053Gln
ENST00000682801.1:c.9158G>A	ENSP00000507862.1:p.Arg3053Gln
ENST00000682859.1:c.9158G>A	ENSP00000508222.1:p.Arg3053Gln
ENST00000683791.1:c.2550G>A
ENST00000684460.1:c.6610G>A
ENST00000684548.1:c.9158G>A	ENSP00000507421.1:p.Arg3053Gln
ENST00000684590.1:c.3605G>A	ENSP00000507376.1:p.Arg1202Gln
ENST00000684656.1:c.6610G>A