Canonical Allele Identifier: CA347283795

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452418C>A , CM000664.2:g.73452418C>A	GRCh38
NC_000002.11:g.73679545C>A , CM000664.1:g.73679545C>A	GRCh37
NC_000002.10:g.73533053C>A	NCBI36
NG_011690.1:g.71666C>A , LRG_741:g.71666C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378454.1:c.5891C>A MANE Select	NP_001365383.1:p.Ala1964Asp
ENST00000613296.6:c.5891C>A MANE Select	ENSP00000482968.1:p.Ala1964Asp
NM_015120.4:c.5894C>A , LRG_741t1:c.5894C>A	NP_055935.4:p.Ala1965Asp
ENST00000423048.5:c.722C>A	ENSP00000399833.1:p.Ala241Asp
ENST00000484298.5:c.5765C>A	ENSP00000478155.1:p.Ala1922Asp
ENST00000613296.4:c.5891C>A	ENSP00000482968.1:p.Ala1964Asp
ENST00000614410.4:c.5891C>A	ENSP00000479094.1:p.Ala1964Asp
ENST00000682565.1:c.5510C>A	ENSP00000507671.1:p.Ala1837Asp
ENST00000682801.1:c.5510C>A	ENSP00000507862.1:p.Ala1837Asp
ENST00000682859.1:c.5510C>A	ENSP00000508222.1:p.Ala1837Asp
ENST00000683791.1:c.685+20127C>A
ENST00000684197.1:n.860C>A
ENST00000684460.1:c.2962C>A
ENST00000684548.1:c.5510C>A	ENSP00000507421.1:p.Ala1837Asp
ENST00000684590.1:c.8C>A	ENSP00000507376.1:p.Ala3Asp
ENST00000684656.1:c.2962C>A