Canonical Allele Identifier: CA398607144
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 2087123
ClinVar RCV Id: RCV003007826
MyVariant Identifiers: chr17:g.18049361T>A (hg19) chr17:g.18146047T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18146047T>A , CM000679.2:g.18146047T>A GRCh38
NC_000017.10:g.18049361T>A , CM000679.1:g.18049361T>A GRCh37
NC_000017.9:g.17990086T>A NCBI36
NG_011634.1:g.42342T>A
NG_011634.2:g.42342T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647165.2:c.6449T>A MANE Select ENSP00000495481.1:p.Leu2150Gln
ENST00000205890.9:c.6449T>A ENSP00000205890.5:p.Leu2150Gln
ENST00000578999.1:n.34T>A
ENST00000615845.4:c.6449T>A ENSP00000481642.1:p.Leu2150Gln
NM_016239.3:c.6449T>A NP_057323.3:p.Leu2150Gln
XM_011523917.1:c.6389T>A XP_011522219.1:p.Leu2130Gln
XM_011523918.1:c.6342+47T>A XP_011522220.1:n.6342+47T>A
XM_011523921.1:c.6443T>A XP_011522223.1:p.Leu2148Gln
XR_934037.1:n.7048T>A
XR_934038.1:n.7048T>A
XM_011523918.2:c.6342+47T>A XP_011522220.1:n.6342+47T>A
XM_017024714.2:c.6389T>A XP_016880203.1:p.Leu2130Gln
XM_017024715.2:c.6452T>A XP_016880204.1:p.Leu2151Gln
XM_024450781.1:c.6213+1455T>A XP_024306549.1:n.6213+1455T>A
NM_016239.4:c.6449T>A MANE Select NP_057323.3:p.Leu2150Gln
Search 100 bp 5'
Search 100 bp 3'