Canonical Allele Identifier: CA505270265
Community Standard Title: NM_012335.4(MYO1F):c.2745G>A (p.Val915=)
Gene: MYO1F HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8526478C>T , CM000681.2:g.8526478C>T GRCh38
NC_000019.9:g.8591362C>T , CM000681.1:g.8591362C>T GRCh37
NC_000019.8:g.8497362C>T NCBI36
NG_052844.1:g.55970G>A

Transcript Alleles

HGVS Amino-acid Change
NM_012335.4:c.2745G>A MANE Select NP_036467.2:p.Val915=
ENST00000644032.2:c.2745G>A MANE Select ENSP00000494550.1:p.Val915=
NM_001348355.1:c.2733G>A NP_001335284.1:p.Val911=
NM_001348355.2:c.2733G>A NP_001335284.1:p.Val911=
NM_012335.3:c.2745G>A NP_036467.2:p.Val915=
ENST00000338257.12:c.2745G>A ENSP00000344871.6:p.Val915=
ENST00000596245.1:n.145G>A
ENST00000598005.1:c.1228G>A ENSP00000469098.1:n.1228G>A
ENST00000600885.1:n.508G>A
ENST00000613525.4:c.2745G>A ENSP00000481682.1:p.Val915=
XM_011528024.1:c.2808G>A XP_011526326.1:p.Val936=
XM_011528024.2:c.2808G>A XP_011526326.1:p.Val936=
XM_011528025.1:c.2796G>A XP_011526327.1:p.Val932=
XM_011528025.2:c.2796G>A XP_011526327.1:p.Val932=
XM_011528026.1:c.2721G>A XP_011526328.1:p.Val907=
XM_011528026.2:c.2721G>A XP_011526328.1:p.Val907=
XM_011528027.1:c.2673G>A XP_011526329.1:p.Val891=
XM_011528027.2:c.2673G>A XP_011526329.1:p.Val891=
XM_024451522.1:c.1590G>A XP_024307290.1:p.Val530=
XR_936179.1:n.2932G>A