Canonical Allele Identifier: CA9159226
Community Standard Title: NM_012335.4(MYO1F):c.1566C>T (p.Asp522=)
Gene: MYO1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8541950G>A , CM000681.2:g.8541950G>A GRCh38
NC_000019.9:g.8606834G>A , CM000681.1:g.8606834G>A GRCh37
NC_000019.8:g.8512834G>A NCBI36
NG_052844.1:g.40498C>T

Transcript Alleles

HGVS Amino-acid Change
NM_012335.4:c.1566C>T MANE Select NP_036467.2:p.Asp522=
ENST00000644032.2:c.1566C>T MANE Select ENSP00000494550.1:p.Asp522=
NM_001348355.1:c.1554C>T NP_001335284.1:p.Asp518=
NM_001348355.2:c.1554C>T NP_001335284.1:p.Asp518=
NM_012335.3:c.1566C>T NP_036467.2:p.Asp522=
ENST00000338257.12:c.1566C>T ENSP00000344871.6:p.Asp522=
ENST00000598005.1:c.7C>T ENSP00000469098.1:p.Arg3Cys
ENST00000598005.2:n.7C>T
ENST00000602136.1:c.309C>T ENSP00000469380.1:p.Asp103=
ENST00000602136.2:c.305C>T
ENST00000613525.4:c.1566C>T ENSP00000481682.1:p.Asp522=
XM_011528024.1:c.1566C>T XP_011526326.1:p.Asp522=
XM_011528024.2:c.1566C>T XP_011526326.1:p.Asp522=
XM_011528025.1:c.1554C>T XP_011526327.1:p.Asp518=
XM_011528025.2:c.1554C>T XP_011526327.1:p.Asp518=
XM_011528026.1:c.1479C>T XP_011526328.1:p.Asp493=
XM_011528026.2:c.1479C>T XP_011526328.1:p.Asp493=
XM_011528027.1:c.1525-1922C>T XP_011526329.1:n.1525-1922C>T
XM_011528027.2:c.1525-1922C>T XP_011526329.1:n.1525-1922C>T
XM_011528028.1:c.1525-1922C>T XP_011526330.1:n.1525-1922C>T
XM_011528028.3:c.1525-1922C>T XP_011526330.1:n.1525-1922C>T
XM_024451522.1:c.348C>T XP_024307290.1:p.Asp116=
XR_001753692.2:n.1699C>T
XR_936179.1:n.1704C>T
XR_936180.1:n.1704C>T
XR_936180.3:n.1699C>T
XR_936181.1:n.1704C>T
XR_936181.2:n.1699C>T
XR_936182.1:n.1704C>T
XR_936182.3:n.1699C>T