Canonical Allele Identifier: CA498430635
Gene: MYO15A HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.18049416T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146102T>A , CM000679.2:g.18146102T>A GRCh38
NC_000017.10:g.18049416T>A , CM000679.1:g.18049416T>A GRCh37
NC_000017.9:g.17990141T>A NCBI36
NG_011634.1:g.42397T>A
NG_011634.2:g.42397T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6504T>A MANE Select ENSP00000495481.1:p.Leu2168=
ENST00000205890.9:c.6504T>A ENSP00000205890.5:p.Leu2168=
ENST00000578999.1:n.89T>A
ENST00000615845.4:c.6504T>A ENSP00000481642.1:p.Leu2168=
NM_016239.3:c.6504T>A NP_057323.3:p.Leu2168=
XM_011523917.1:c.6444T>A XP_011522219.1:p.Leu2148=
XM_011523918.1:c.6342+102T>A XP_011522220.1:n.6342+102T>A
XM_011523921.1:c.6498T>A XP_011522223.1:p.Leu2166=
XR_934037.1:n.7103T>A
XR_934038.1:n.7103T>A
XM_011523918.2:c.6342+102T>A XP_011522220.1:n.6342+102T>A
XM_017024714.2:c.6444T>A XP_016880203.1:p.Leu2148=
XM_017024715.2:c.6507T>A XP_016880204.1:p.Leu2169=
XM_024450781.1:c.6213+1510T>A XP_024306549.1:n.6213+1510T>A
NM_016239.4:c.6504T>A MANE Select NP_057323.3:p.Leu2168=