Canonical Allele Identifier: CA8425816
Gene: MYO15A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18171691C>T , CM000679.2:g.18171691C>T GRCh38
NC_000017.10:g.18075005C>T , CM000679.1:g.18075005C>T GRCh37
NC_000017.9:g.18015730C>T NCBI36
NG_011634.1:g.67986C>T
NG_011634.2:g.67986C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000642418.1:n.2540C>T
ENST00000643693.1:n.2078C>T
ENST00000644795.1:c.1928C>T ENSP00000495720.1:p.Ser643Leu
ENST00000646782.1:n.2870C>T
ENST00000647165.2:c.10136C>T MANE Select ENSP00000495481.1:p.Ser3379Leu
ENST00000651214.1:n.2567C>T
ENST00000205890.9:c.10136C>T ENSP00000205890.5:p.Ser3379Leu
ENST00000418233.7:c.1928C>T ENSP00000408800.3:p.Ser643Leu
ENST00000433411.7:n.1586C>T
ENST00000445289.6:n.905C>T
ENST00000578575.1:c.678C>T
ENST00000579848.6:c.556C>T ENSP00000465910.1:p.Arg186Ter
ENST00000615845.4:c.10136C>T ENSP00000481642.1:p.Ser3379Leu
NM_016239.3:c.10136C>T NP_057323.3:p.Ser3379Leu
XM_011523921.1:c.10130C>T XP_011522223.1:p.Ser3377Leu
XM_017024714.2:c.10076C>T XP_016880203.1:p.Ser3359Leu
XM_017024715.2:c.10139C>T XP_016880204.1:p.Ser3380Leu
NM_016239.4:c.10136C>T MANE Select NP_057323.3:p.Ser3379Leu