Canonical Allele Identifier: CA1715373

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73601219A>T , CM000664.2:g.73601219A>T	GRCh38
NC_000002.11:g.73828346A>T , CM000664.1:g.73828346A>T	GRCh37
NC_000002.10:g.73681854A>T	NCBI36
NG_011690.1:g.220467A>T , LRG_741:g.220467A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.11897A>T MANE Select	NP_001365383.1:p.Glu3966Val
ENST00000613296.6:c.11897A>T MANE Select	ENSP00000482968.1:p.Glu3966Val
NM_015120.4:c.11900A>T , LRG_741t1:c.11900A>T	NP_055935.4:p.Glu3967Val
ENST00000464408.3:n.72A>T
ENST00000484298.5:c.11771A>T	ENSP00000478155.1:p.Glu3924Val
ENST00000613296.4:c.11897A>T	ENSP00000482968.1:p.Glu3966Val
ENST00000620466.4:n.5700A>T
ENST00000651057.1:c.2051A>T	ENSP00000498504.1:p.Glu684Val
ENST00000651434.1:c.3253A>T
ENST00000651750.1:c.1260+338A>T
ENST00000652487.1:c.3068A>T
ENST00000682565.1:c.11516A>T	ENSP00000507671.1:p.Glu3839Val
ENST00000682801.1:c.11167-966A>T	ENSP00000507862.1:n.11167-966A>T
ENST00000682859.1:c.11516A>T	ENSP00000508222.1:p.Glu3839Val
ENST00000683791.1:c.4602A>T
ENST00000684460.1:c.8797A>T
ENST00000684548.1:c.11516A>T	ENSP00000507421.1:p.Glu3839Val
ENST00000684590.1:c.5963A>T	ENSP00000507376.1:p.Glu1988Val
ENST00000684656.1:c.8981A>T