Canonical Allele Identifier: CA398633772
Gene: MYO15A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18159296A>C , CM000679.2:g.18159296A>C GRCh38
NC_000017.10:g.18062610A>C , CM000679.1:g.18062610A>C GRCh37
NC_000017.9:g.18003335A>C NCBI36
NG_011634.1:g.55591A>C
NG_011634.2:g.55591A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1516A>C
ENST00000643693.1:n.980A>C
ENST00000644795.1:c.970A>C ENSP00000495720.1:p.Ile324Leu
ENST00000646782.1:n.1912A>C
ENST00000647165.2:c.9178A>C MANE Select ENSP00000495481.1:p.Ile3060Leu
ENST00000651214.1:n.1683A>C
ENST00000205890.9:c.9178A>C ENSP00000205890.5:p.Ile3060Leu
ENST00000418233.7:c.970A>C ENSP00000408800.3:p.Ile324Leu
ENST00000433411.7:n.115A>C
ENST00000445289.6:n.316+1396A>C
ENST00000556535.5:c.40A>C ENSP00000451782.1:p.Ile14Leu
ENST00000557190.5:n.80A>C
ENST00000557655.5:c.40A>C ENSP00000451925.1:p.Ile14Leu
ENST00000578472.5:c.40A>C ENSP00000467989.1:p.Ile14Leu
ENST00000615845.4:c.9178A>C ENSP00000481642.1:p.Ile3060Leu
NM_016239.3:c.9178A>C NP_057323.3:p.Ile3060Leu
XM_011523921.1:c.9172A>C XP_011522223.1:p.Ile3058Leu
XM_017024714.2:c.9118A>C XP_016880203.1:p.Ile3040Leu
XM_017024715.2:c.9181A>C XP_016880204.1:p.Ile3061Leu
NM_016239.4:c.9178A>C MANE Select NP_057323.3:p.Ile3060Leu