Canonical Allele Identifier: CA347274098

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73491284C>G , CM000664.2:g.73491284C>G	GRCh38
NC_000002.11:g.73718411C>G , CM000664.1:g.73718411C>G	GRCh37
NC_000002.10:g.73571919C>G	NCBI36
NG_011690.1:g.110532C>G , LRG_741:g.110532C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.9325C>G MANE Select	NP_001365383.1:p.Gln3109Glu
ENST00000613296.6:c.9325C>G MANE Select	ENSP00000482968.1:p.Gln3109Glu
NM_015120.4:c.9328C>G , LRG_741t1:c.9328C>G	NP_055935.4:p.Gln3110Glu
ENST00000423048.5:c.3030+1126C>G	ENSP00000399833.1:n.3030+1126C>G
ENST00000484298.5:c.9199C>G	ENSP00000478155.1:p.Gln3067Glu
ENST00000613296.4:c.9325C>G	ENSP00000482968.1:p.Gln3109Glu
ENST00000614410.4:c.9325C>G	ENSP00000479094.1:p.Gln3109Glu
ENST00000620466.4:n.3128C>G
ENST00000651434.1:c.896-28491C>G
ENST00000652487.1:c.422C>G
ENST00000682565.1:c.8944C>G	ENSP00000507671.1:p.Gln2982Glu
ENST00000682801.1:c.8944C>G	ENSP00000507862.1:p.Gln2982Glu
ENST00000682859.1:c.8944C>G	ENSP00000508222.1:p.Gln2982Glu
ENST00000683791.1:c.2336C>G
ENST00000684460.1:c.6396C>G
ENST00000684548.1:c.8944C>G	ENSP00000507421.1:p.Gln2982Glu
ENST00000684590.1:c.3391C>G	ENSP00000507376.1:p.Gln1131Glu
ENST00000684656.1:c.6396C>G