Canonical Allele Identifier: CA50397074
Gene: ALMS1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000682565.1:c.5446C>A ENSP00000507671.1:p.Arg1816Ser
ENST00000682801.1:c.5446C>A ENSP00000507862.1:p.Arg1816Ser
ENST00000682859.1:c.5446C>A ENSP00000508222.1:p.Arg1816Ser
ENST00000683791.1:c.685+20063C>A
ENST00000684197.1:n.796C>A
ENST00000684460.1:c.2898C>A
ENST00000684548.1:c.5446C>A ENSP00000507421.1:p.Arg1816Ser
ENST00000684656.1:c.2898C>A
ENST00000613296.6:c.5827C>A MANE Select ENSP00000482968.1:p.Arg1943Ser
ENST00000423048.5:c.658C>A ENSP00000399833.1:p.Arg220Ser
ENST00000484298.5:c.5701C>A ENSP00000478155.1:p.Arg1901Ser
ENST00000613296.4:c.5827C>A ENSP00000482968.1:p.Arg1943Ser
ENST00000614410.4:c.5827C>A ENSP00000479094.1:p.Arg1943Ser
NM_015120.4:c.5830C>A , LRG_741t1:c.5830C>A NP_055935.4:p.Arg1944Ser
NM_001378454.1:c.5827C>A MANE Select NP_001365383.1:p.Arg1943Ser