Canonical Allele Identifier: CA288407420
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 3161134
ClinVar RCV Id: RCV004448002
dbSNP Id: rs531893776
gnomAD v3: 17-18145965-C-A
MyVariant Identifiers: chr17:g.18049279C>A (hg19) chr17:g.18145965C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18145965C>A , CM000679.2:g.18145965C>A GRCh38
NC_000017.10:g.18049279C>A , CM000679.1:g.18049279C>A GRCh37
NC_000017.9:g.17990004C>A NCBI36
NG_011634.1:g.42260C>A
NG_011634.2:g.42260C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6367C>A MANE Select ENSP00000495481.1:p.Leu2123Met
ENST00000205890.9:c.6367C>A ENSP00000205890.5:p.Leu2123Met
ENST00000615845.4:c.6367C>A ENSP00000481642.1:p.Leu2123Met
NM_016239.3:c.6367C>A NP_057323.3:p.Leu2123Met
XM_011523917.1:c.6307C>A XP_011522219.1:p.Leu2103Met
XM_011523918.1:c.6307C>A XP_011522220.1:p.Leu2103Met
XM_011523921.1:c.6361C>A XP_011522223.1:p.Leu2121Met
XR_934037.1:n.6966C>A
XR_934038.1:n.6966C>A
XM_011523918.2:c.6307C>A XP_011522220.1:p.Leu2103Met
XM_017024714.2:c.6307C>A XP_016880203.1:p.Leu2103Met
XM_017024715.2:c.6370C>A XP_016880204.1:p.Leu2124Met
XM_024450781.1:c.6213+1373C>A XP_024306549.1:n.6213+1373C>A
NM_016239.4:c.6367C>A MANE Select NP_057323.3:p.Leu2123Met
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