Canonical Allele Identifier: CA2250879470
Community Standard Title: NM_016239.4(MYO15A):c.9486C= (p.Asp3162=)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18161416C= , CM000679.2:g.18161416C= GRCh38
NC_000017.10:g.18064730C= , CM000679.1:g.18064730C= GRCh37
NC_000017.9:g.18005455C= NCBI36
NG_011634.1:g.57711C=
NG_011634.2:g.57711C=

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.9486C= MANE Select NP_057323.3:p.Asp3162=
ENST00000647165.2:c.9486C= MANE Select ENSP00000495481.1:p.Asp3162=
NM_016239.3:c.9486C= NP_057323.3:p.Asp3162=
ENST00000205890.9:c.9486C= ENSP00000205890.5:p.Asp3162=
ENST00000418233.7:c.1278C= ENSP00000408800.3:p.Asp426=
ENST00000433411.7:n.936C=
ENST00000445289.6:n.416C=
ENST00000473013.1:n.670C=
ENST00000556535.5:c.348C= ENSP00000451782.1:p.Asp116=
ENST00000557190.5:n.314C=
ENST00000557655.5:c.*166C= ENSP00000451925.1:n.*166C=
ENST00000578472.5:c.348C= ENSP00000467989.1:p.Asp116=
ENST00000578575.1:c.49C=
ENST00000579848.6:c.201C= ENSP00000465910.1:p.Asp67=
ENST00000615845.4:c.9486C= ENSP00000481642.1:p.Asp3162=
ENST00000642418.1:n.1750C=
ENST00000643693.1:n.1288C=
ENST00000644795.1:c.1278C= ENSP00000495720.1:p.Asp426=
ENST00000646782.1:n.2220C=
ENST00000651214.1:n.1917C=
XM_011523921.1:c.9480C= XP_011522223.1:p.Asp3160=
XM_017024714.2:c.9426C= XP_016880203.1:p.Asp3142=
XM_017024715.2:c.9489C= XP_016880204.1:p.Asp3163=