Canonical Allele Identifier: CA347290902

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453614C>G , CM000664.2:g.73453614C>G	GRCh38
NC_000002.11:g.73680741C>G , CM000664.1:g.73680741C>G	GRCh37
NC_000002.10:g.73534249C>G	NCBI36
NG_011690.1:g.72862C>G , LRG_741:g.72862C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.7087C>G MANE Select	NP_001365383.1:p.Leu2363Val
ENST00000613296.6:c.7087C>G MANE Select	ENSP00000482968.1:p.Leu2363Val
NM_015120.4:c.7090C>G , LRG_741t1:c.7090C>G	NP_055935.4:p.Leu2364Val
ENST00000423048.5:c.1918C>G	ENSP00000399833.1:p.Leu640Val
ENST00000484298.5:c.6961C>G	ENSP00000478155.1:p.Leu2321Val
ENST00000613296.4:c.7087C>G	ENSP00000482968.1:p.Leu2363Val
ENST00000614410.4:c.7087C>G	ENSP00000479094.1:p.Leu2363Val
ENST00000620466.4:n.890C>G
ENST00000651434.1:c.308C>G
ENST00000682565.1:c.6706C>G	ENSP00000507671.1:p.Leu2236Val
ENST00000682801.1:c.6706C>G	ENSP00000507862.1:p.Leu2236Val
ENST00000682859.1:c.6706C>G	ENSP00000508222.1:p.Leu2236Val
ENST00000683791.1:c.685+21323C>G
ENST00000684197.1:n.2056C>G
ENST00000684460.1:c.4158C>G
ENST00000684548.1:c.6706C>G	ENSP00000507421.1:p.Leu2236Val
ENST00000684590.1:c.1204C>G	ENSP00000507376.1:p.Leu402Val
ENST00000684656.1:c.4158C>G