Canonical Allele Identifier: CA182359
Community Standard Title: NM_016239.4(MYO15A):c.10242C>T (p.Phe3414=)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18172182C>T , CM000679.2:g.18172182C>T GRCh38
NC_000017.10:g.18075496C>T , CM000679.1:g.18075496C>T GRCh37
NC_000017.9:g.18016221C>T NCBI36
NG_011634.1:g.68477C>T
NG_011634.2:g.68477C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.10242C>T MANE Select NP_057323.3:p.Phe3414=
ENST00000647165.2:c.10242C>T MANE Select ENSP00000495481.1:p.Phe3414=
NM_016239.3:c.10242C>T NP_057323.3:p.Phe3414=
ENST00000205890.9:c.10242C>T ENSP00000205890.5:p.Phe3414=
ENST00000418233.7:c.2034C>T ENSP00000408800.3:p.Phe678=
ENST00000433411.7:n.1667-25C>T
ENST00000445289.6:n.1011C>T
ENST00000578575.1:c.784C>T
ENST00000579848.6:c.662C>T ENSP00000465910.1:p.Ser221Leu
ENST00000615845.4:c.10242C>T ENSP00000481642.1:p.Phe3414=
ENST00000642418.1:n.2621-25C>T
ENST00000643693.1:n.2184C>T
ENST00000644795.1:c.2009-25C>T ENSP00000495720.1:n.2009-25C>T
ENST00000646782.1:n.2951-25C>T
ENST00000651214.1:n.2673C>T
XM_011523921.1:c.10236C>T XP_011522223.1:p.Phe3412=
XM_017024714.2:c.10182C>T XP_016880203.1:p.Phe3394=
XM_017024715.2:c.10245C>T XP_016880204.1:p.Phe3415=