Canonical Allele Identifier: CA10645042

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 322175
• ClinVar RCV Id: RCV000406649 ; RCV003669131
• dbSNP Id: rs886052681
• gnomAD v4: 17-18158645-G-A
• MyVariant Identifiers: chr17:g.18061959G>A (hg19) ; chr17:g.18158645G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18158645G>A , CM000679.2:g.18158645G>A	GRCh38
NC_000017.10:g.18061959G>A , CM000679.1:g.18061959G>A	GRCh37
NC_000017.9:g.18002684G>A	NCBI36
NG_011634.1:g.54940G>A
NG_011634.2:g.54940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1421+7G>A
ENST00000643693.1:n.885+7G>A
ENST00000644795.1:c.875+7G>A	ENSP00000495720.1:n.875+7G>A
ENST00000646782.1:n.1817+7G>A
ENST00000647165.2:c.9083+7G>A MANE Select	ENSP00000495481.1:n.9083+7G>A
ENST00000651214.1:n.1587-280G>A
ENST00000205890.9:c.9083+7G>A	ENSP00000205890.5:n.9083+7G>A
ENST00000418233.7:c.875+7G>A	ENSP00000408800.3:n.875+7G>A
ENST00000433411.7:n.21-280G>A
ENST00000445289.6:n.316+745G>A
ENST00000556535.5:c.-55-280G>A	ENSP00000451782.1:n.-55-280G>A
ENST00000557190.5:n.58+280G>A
ENST00000557655.5:c.-55-280G>A	ENSP00000451925.1:n.-55-280G>A
ENST00000578472.5:c.-56+7G>A	ENSP00000467989.1:n.-56+7G>A
ENST00000615845.4:c.9083+7G>A	ENSP00000481642.1:n.9083+7G>A
NM_016239.3:c.9083+7G>A	NP_057323.3:n.9083+7G>A
XM_011523921.1:c.9077+7G>A	XP_011522223.1:n.9077+7G>A
XM_017024714.2:c.9023+7G>A	XP_016880203.1:n.9023+7G>A
XM_017024715.2:c.9086+7G>A	XP_016880204.1:n.9086+7G>A
NM_016239.4:c.9083+7G>A MANE Select	NP_057323.3:n.9083+7G>A