Canonical Allele Identifier: CA1713946

Gene: ALMS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.73452354C>T , CM000664.2:g.73452354C>T	GRCh38
NC_000002.11:g.73679481C>T , CM000664.1:g.73679481C>T	GRCh37
NC_000002.10:g.73532989C>T	NCBI36
NG_011690.1:g.71602C>T , LRG_741:g.71602C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682565.1:c.5446C>T	ENSP00000507671.1:p.Arg1816Cys
ENST00000682801.1:c.5446C>T	ENSP00000507862.1:p.Arg1816Cys
ENST00000682859.1:c.5446C>T	ENSP00000508222.1:p.Arg1816Cys
ENST00000683791.1:c.685+20063C>T
ENST00000684197.1:n.796C>T
ENST00000684460.1:c.2898C>T
ENST00000684548.1:c.5446C>T	ENSP00000507421.1:p.Arg1816Cys
ENST00000684656.1:c.2898C>T
ENST00000613296.6:c.5827C>T MANE Select	ENSP00000482968.1:p.Arg1943Cys
ENST00000423048.5:c.658C>T	ENSP00000399833.1:p.Arg220Cys
ENST00000484298.5:c.5701C>T	ENSP00000478155.1:p.Arg1901Cys
ENST00000613296.4:c.5827C>T	ENSP00000482968.1:p.Arg1943Cys
ENST00000614410.4:c.5827C>T	ENSP00000479094.1:p.Arg1943Cys
NM_015120.4:c.5830C>T , LRG_741t1:c.5830C>T	NP_055935.4:p.Arg1944Cys
NM_001378454.1:c.5827C>T MANE Select	NP_001365383.1:p.Arg1943Cys