Canonical Allele Identifier: CA398638719
Gene: MYO15A HGNC NCBI
ClinVar RCV:
ClinVar Variation:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18163251G>T , CM000679.2:g.18163251G>T GRCh38
NC_000017.10:g.18066565G>T , CM000679.1:g.18066565G>T GRCh37
NC_000017.9:g.18007290G>T NCBI36
NG_011634.1:g.59546G>T
NG_011634.2:g.59546G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.1884G>T
ENST00000643693.1:n.1422G>T
ENST00000644795.1:c.1412G>T ENSP00000495720.1:p.Arg471Leu
ENST00000646782.1:n.2354G>T
ENST00000647165.2:c.9620G>T MANE Select ENSP00000495481.1:p.Arg3207Leu
ENST00000651214.1:n.2051G>T
ENST00000205890.9:c.9620G>T ENSP00000205890.5:p.Arg3207Leu
ENST00000418233.7:c.1412G>T ENSP00000408800.3:p.Arg471Leu
ENST00000433411.7:n.1070G>T
ENST00000445289.6:n.550G>T
ENST00000473013.1:n.804G>T
ENST00000557190.5:n.448G>T
ENST00000557655.5:c.*300G>T ENSP00000451925.1:n.*300G>T
ENST00000578575.1:c.183G>T
ENST00000579848.6:c.335G>T ENSP00000465910.1:p.Arg112Leu
ENST00000615845.4:c.9620G>T ENSP00000481642.1:p.Arg3207Leu
NM_016239.3:c.9620G>T NP_057323.3:p.Arg3207Leu
XM_011523921.1:c.9614G>T XP_011522223.1:p.Arg3205Leu
XM_017024714.2:c.9560G>T XP_016880203.1:p.Arg3187Leu
XM_017024715.2:c.9623G>T XP_016880204.1:p.Arg3208Leu
NM_016239.4:c.9620G>T MANE Select NP_057323.3:p.Arg3207Leu