Canonical Allele Identifier: CA50397593

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452738A>G , CM000664.2:g.73452738A>G	GRCh38
NC_000002.11:g.73679865A>G , CM000664.1:g.73679865A>G	GRCh37
NC_000002.10:g.73533373A>G	NCBI36
NG_011690.1:g.71986A>G , LRG_741:g.71986A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.6211A>G MANE Select	NP_001365383.1:p.Ile2071Val
ENST00000613296.6:c.6211A>G MANE Select	ENSP00000482968.1:p.Ile2071Val
NM_015120.4:c.6214A>G , LRG_741t1:c.6214A>G	NP_055935.4:p.Ile2072Val
ENST00000423048.5:c.1042A>G	ENSP00000399833.1:p.Ile348Val
ENST00000484298.5:c.6085A>G	ENSP00000478155.1:p.Ile2029Val
ENST00000613296.4:c.6211A>G	ENSP00000482968.1:p.Ile2071Val
ENST00000614410.4:c.6211A>G	ENSP00000479094.1:p.Ile2071Val
ENST00000620466.4:n.14A>G
ENST00000682565.1:c.5830A>G	ENSP00000507671.1:p.Ile1944Val
ENST00000682801.1:c.5830A>G	ENSP00000507862.1:p.Ile1944Val
ENST00000682859.1:c.5830A>G	ENSP00000508222.1:p.Ile1944Val
ENST00000683791.1:c.685+20447A>G
ENST00000684197.1:n.1180A>G
ENST00000684460.1:c.3282A>G
ENST00000684548.1:c.5830A>G	ENSP00000507421.1:p.Ile1944Val
ENST00000684590.1:c.328A>G	ENSP00000507376.1:p.Ile110Val
ENST00000684656.1:c.3282A>G