Canonical Allele Identifier: CA16044421
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 375674
ClinVar RCV Id: RCV000417169
dbSNP Id: rs1057519603

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18126856T>C , CM000679.2:g.18126856T>C GRCh38
NC_000017.10:g.18030170T>C , CM000679.1:g.18030170T>C GRCh37
NC_000017.9:g.17970895T>C NCBI36
NG_011634.1:g.23151T>C
NG_011634.2:g.23151T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.3932T>C MANE Select ENSP00000495481.1:p.Ile1311Thr
ENST00000205890.9:c.3932T>C ENSP00000205890.5:p.Ile1311Thr
ENST00000615845.4:c.3932T>C ENSP00000481642.1:p.Ile1311Thr
NM_016239.3:c.3932T>C NP_057323.3:p.Ile1311Thr
XM_011523917.1:c.3932T>C XP_011522219.1:p.Ile1311Thr
XM_011523918.1:c.3932T>C XP_011522220.1:p.Ile1311Thr
XM_011523919.1:c.3932T>C XP_011522221.1:p.Ile1311Thr
XM_011523920.1:c.3932T>C XP_011522222.1:p.Ile1311Thr
XM_011523921.1:c.3932T>C XP_011522223.1:p.Ile1311Thr
XR_934037.1:n.4591T>C
XR_934038.1:n.4591T>C
XR_934039.1:n.4591T>C
XM_011523918.2:c.3932T>C XP_011522220.1:p.Ile1311Thr
XM_017024714.2:c.3932T>C XP_016880203.1:p.Ile1311Thr
XM_017024715.2:c.3932T>C XP_016880204.1:p.Ile1311Thr
XM_024450780.1:c.3932T>C XP_024306548.1:p.Ile1311Thr
XM_024450781.1:c.3932T>C XP_024306549.1:p.Ile1311Thr
XM_024450782.1:c.3932T>C XP_024306550.1:p.Ile1311Thr
XR_934039.2:n.4630T>C
NM_016239.4:c.3932T>C MANE Select NP_057323.3:p.Ile1311Thr