Canonical Allele Identifier: CA398607099

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 1301944
• ClinVar RCV Id: RCV002225012 ; RCV003560839
• dbSNP Id: rs2142355107
• gnomAD v4: 17-18146040-T-A
• MyVariant Identifiers: chr17:g.18049354T>A (hg19) ; chr17:g.18146040T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18146040T>A , CM000679.2:g.18146040T>A	GRCh38
NC_000017.10:g.18049354T>A , CM000679.1:g.18049354T>A	GRCh37
NC_000017.9:g.17990079T>A	NCBI36
NG_011634.1:g.42335T>A
NG_011634.2:g.42335T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6442T>A MANE Select	ENSP00000495481.1:p.Trp2148Arg
ENST00000205890.9:c.6442T>A	ENSP00000205890.5:p.Trp2148Arg
ENST00000578999.1:n.27T>A
ENST00000615845.4:c.6442T>A	ENSP00000481642.1:p.Trp2148Arg
NM_016239.3:c.6442T>A	NP_057323.3:p.Trp2148Arg
XM_011523917.1:c.6382T>A	XP_011522219.1:p.Trp2128Arg
XM_011523918.1:c.6342+40T>A	XP_011522220.1:n.6342+40T>A
XM_011523921.1:c.6436T>A	XP_011522223.1:p.Trp2146Arg
XR_934037.1:n.7041T>A
XR_934038.1:n.7041T>A
XM_011523918.2:c.6342+40T>A	XP_011522220.1:n.6342+40T>A
XM_017024714.2:c.6382T>A	XP_016880203.1:p.Trp2128Arg
XM_017024715.2:c.6445T>A	XP_016880204.1:p.Trp2149Arg
XM_024450781.1:c.6213+1448T>A	XP_024306549.1:n.6213+1448T>A
NM_016239.4:c.6442T>A MANE Select	NP_057323.3:p.Trp2148Arg