Canonical Allele Identifier: CA8425419

Gene: MYO15A

Linked Data

• dbSNP Id: rs182977390
• ExAC: 17:18062622 G / A
• gnomAD v2: 17-18062622-G-A
• gnomAD v3: 17-18159308-G-A
• gnomAD v4: 17-18159308-G-A
• COSMIC: COSM1381299
• MyVariant Identifiers: chr17:g.18062622G>A (hg19) ; chr17:g.18159308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159308G>A , CM000679.2:g.18159308G>A	GRCh38
NC_000017.10:g.18062622G>A , CM000679.1:g.18062622G>A	GRCh37
NC_000017.9:g.18003347G>A	NCBI36
NG_011634.1:g.55603G>A
NG_011634.2:g.55603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1528G>A
ENST00000643693.1:n.992G>A
ENST00000644795.1:c.982G>A	ENSP00000495720.1:p.Asp328Asn
ENST00000646782.1:n.1924G>A
ENST00000647165.2:c.9190G>A MANE Select	ENSP00000495481.1:p.Asp3064Asn
ENST00000651214.1:n.1695G>A
ENST00000205890.9:c.9190G>A	ENSP00000205890.5:p.Asp3064Asn
ENST00000418233.7:c.982G>A	ENSP00000408800.3:p.Asp328Asn
ENST00000433411.7:n.127G>A
ENST00000445289.6:n.316+1408G>A
ENST00000556535.5:c.52G>A	ENSP00000451782.1:p.Asp18Asn
ENST00000557190.5:n.92G>A
ENST00000557655.5:c.52G>A	ENSP00000451925.1:p.Asp18Asn
ENST00000578472.5:c.52G>A	ENSP00000467989.1:p.Asp18Asn
ENST00000615845.4:c.9190G>A	ENSP00000481642.1:p.Asp3064Asn
NM_016239.3:c.9190G>A	NP_057323.3:p.Asp3064Asn
XM_011523921.1:c.9184G>A	XP_011522223.1:p.Asp3062Asn
XM_017024714.2:c.9130G>A	XP_016880203.1:p.Asp3044Asn
XM_017024715.2:c.9193G>A	XP_016880204.1:p.Asp3065Asn
NM_016239.4:c.9190G>A MANE Select	NP_057323.3:p.Asp3064Asn