Canonical Allele Identifier: CA347288159

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73453023C>G , CM000664.2:g.73453023C>G	GRCh38
NC_000002.11:g.73680150C>G , CM000664.1:g.73680150C>G	GRCh37
NC_000002.10:g.73533658C>G	NCBI36
NG_011690.1:g.72271C>G , LRG_741:g.72271C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6496C>G MANE Select	NP_001365383.1:p.Leu2166Val
ENST00000613296.6:c.6496C>G MANE Select	ENSP00000482968.1:p.Leu2166Val
NM_015120.4:c.6499C>G , LRG_741t1:c.6499C>G	NP_055935.4:p.Leu2167Val
ENST00000423048.5:c.1327C>G	ENSP00000399833.1:p.Leu443Val
ENST00000484298.5:c.6370C>G	ENSP00000478155.1:p.Leu2124Val
ENST00000613296.4:c.6496C>G	ENSP00000482968.1:p.Leu2166Val
ENST00000614410.4:c.6496C>G	ENSP00000479094.1:p.Leu2166Val
ENST00000620466.4:n.299C>G
ENST00000682565.1:c.6115C>G	ENSP00000507671.1:p.Leu2039Val
ENST00000682801.1:c.6115C>G	ENSP00000507862.1:p.Leu2039Val
ENST00000682859.1:c.6115C>G	ENSP00000508222.1:p.Leu2039Val
ENST00000683791.1:c.685+20732C>G
ENST00000684197.1:n.1465C>G
ENST00000684460.1:c.3567C>G
ENST00000684548.1:c.6115C>G	ENSP00000507421.1:p.Leu2039Val
ENST00000684590.1:c.613C>G	ENSP00000507376.1:p.Leu205Val
ENST00000684656.1:c.3567C>G