Canonical Allele Identifier: CA9158858
Community Standard Title: NM_012335.4(MYO1F):c.2508G>C (p.Glu836Asp)
Gene: MYO1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8526902C>G , CM000681.2:g.8526902C>G GRCh38
NC_000019.9:g.8591786C>G , CM000681.1:g.8591786C>G GRCh37
NC_000019.8:g.8497786C>G NCBI36
NG_052844.1:g.55546G>C

Transcript Alleles

HGVS Amino-acid Change
NM_012335.4:c.2508G>C MANE Select NP_036467.2:p.Glu836Asp
ENST00000644032.2:c.2508G>C MANE Select ENSP00000494550.1:p.Glu836Asp
NM_001348355.1:c.2496G>C NP_001335284.1:p.Glu832Asp
NM_001348355.2:c.2496G>C NP_001335284.1:p.Glu832Asp
NM_012335.3:c.2508G>C NP_036467.2:p.Glu836Asp
ENST00000338257.12:c.2508G>C ENSP00000344871.6:p.Glu836Asp
ENST00000598005.1:c.991G>C ENSP00000469098.1:n.991G>C
ENST00000600885.1:n.84G>C
ENST00000613525.4:c.2508G>C ENSP00000481682.1:p.Glu836Asp
XM_011528024.1:c.2571G>C XP_011526326.1:p.Glu857Asp
XM_011528024.2:c.2571G>C XP_011526326.1:p.Glu857Asp
XM_011528025.1:c.2559G>C XP_011526327.1:p.Glu853Asp
XM_011528025.2:c.2559G>C XP_011526327.1:p.Glu853Asp
XM_011528026.1:c.2484G>C XP_011526328.1:p.Glu828Asp
XM_011528026.2:c.2484G>C XP_011526328.1:p.Glu828Asp
XM_011528027.1:c.2436G>C XP_011526329.1:p.Glu812Asp
XM_011528027.2:c.2436G>C XP_011526329.1:p.Glu812Asp
XM_024451522.1:c.1353G>C XP_024307290.1:p.Glu451Asp
XR_001753692.2:n.2690G>C
XR_936179.1:n.2695G>C