Canonical Allele Identifier: CA398633836
Gene: MYO15A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18159303T>C , CM000679.2:g.18159303T>C GRCh38
NC_000017.10:g.18062617T>C , CM000679.1:g.18062617T>C GRCh37
NC_000017.9:g.18003342T>C NCBI36
NG_011634.1:g.55598T>C
NG_011634.2:g.55598T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1523T>C
ENST00000643693.1:n.987T>C
ENST00000644795.1:c.977T>C ENSP00000495720.1:p.Leu326Pro
ENST00000646782.1:n.1919T>C
ENST00000647165.2:c.9185T>C MANE Select ENSP00000495481.1:p.Leu3062Pro
ENST00000651214.1:n.1690T>C
ENST00000205890.9:c.9185T>C ENSP00000205890.5:p.Leu3062Pro
ENST00000418233.7:c.977T>C ENSP00000408800.3:p.Leu326Pro
ENST00000433411.7:n.122T>C
ENST00000445289.6:n.316+1403T>C
ENST00000556535.5:c.47T>C ENSP00000451782.1:p.Leu16Pro
ENST00000557190.5:n.87T>C
ENST00000557655.5:c.47T>C ENSP00000451925.1:p.Leu16Pro
ENST00000578472.5:c.47T>C ENSP00000467989.1:p.Leu16Pro
ENST00000615845.4:c.9185T>C ENSP00000481642.1:p.Leu3062Pro
NM_016239.3:c.9185T>C NP_057323.3:p.Leu3062Pro
XM_011523921.1:c.9179T>C XP_011522223.1:p.Leu3060Pro
XM_017024714.2:c.9125T>C XP_016880203.1:p.Leu3042Pro
XM_017024715.2:c.9188T>C XP_016880204.1:p.Leu3063Pro
NM_016239.4:c.9185T>C MANE Select NP_057323.3:p.Leu3062Pro