Canonical Allele Identifier: CA8424999
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 226790
ClinVar RCV Id: RCV000214657 RCV000317870 RCV002054381
dbSNP Id: rs712270
ExAC: 17:18057167 A / T
gnomAD v2: 17-18057167-A-T
gnomAD v3: 17-18153853-A-T
gnomAD v4: 17-18153853-A-T
MyVariant Identifiers: chr17:g.18057167A>T (hg19) chr17:g.18153853A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18153853A>T , CM000679.2:g.18153853A>T GRCh38
NC_000017.10:g.18057167A>T , CM000679.1:g.18057167A>T GRCh37
NC_000017.9:g.17997892A>T NCBI36
NG_011634.1:g.50148A>T
NG_011634.2:g.50148A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644795.1:c.-164A>T ENSP00000495720.1:n.-164A>T
ENST00000646782.1:n.200A>T
ENST00000647165.2:c.8045A>T MANE Select ENSP00000495481.1:p.Tyr2682Phe
ENST00000651214.1:n.191A>T
ENST00000205890.9:c.8045A>T ENSP00000205890.5:p.Tyr2682Phe
ENST00000418233.7:c.-164A>T ENSP00000408800.3:n.-164A>T
ENST00000615845.4:c.8045A>T ENSP00000481642.1:p.Tyr2682Phe
NM_016239.3:c.8045A>T NP_057323.3:p.Tyr2682Phe
XM_011523921.1:c.8039A>T XP_011522223.1:p.Tyr2680Phe
XM_017024714.2:c.7985A>T XP_016880203.1:p.Tyr2662Phe
XM_017024715.2:c.8048A>T XP_016880204.1:p.Tyr2683Phe
XR_001752809.1:n.329T>A
XR_001752810.1:n.372T>A
NM_016239.4:c.8045A>T MANE Select NP_057323.3:p.Tyr2682Phe
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