Canonical Allele Identifier: CA398606326

Gene: MYO15A

Linked Data

• dbSNP Id: rs749332616
• gnomAD v2: 17-18049192-C-T
• gnomAD v4: 17-18145878-C-T
• MyVariant Identifiers: chr17:g.18049192C>T (hg19) ; chr17:g.18145878C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145878C>T , CM000679.2:g.18145878C>T	GRCh38
NC_000017.10:g.18049192C>T , CM000679.1:g.18049192C>T	GRCh37
NC_000017.9:g.17989917C>T	NCBI36
NG_011634.1:g.42173C>T
NG_011634.2:g.42173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6280C>T MANE Select	ENSP00000495481.1:p.Arg2094Cys
ENST00000205890.9:c.6280C>T	ENSP00000205890.5:p.Arg2094Cys
ENST00000615845.4:c.6280C>T	ENSP00000481642.1:p.Arg2094Cys
NM_016239.3:c.6280C>T	NP_057323.3:p.Arg2094Cys
XM_011523917.1:c.6220C>T	XP_011522219.1:p.Arg2074Cys
XM_011523918.1:c.6220C>T	XP_011522220.1:p.Arg2074Cys
XM_011523921.1:c.6274C>T	XP_011522223.1:p.Arg2092Cys
XR_934037.1:n.6879C>T
XR_934038.1:n.6879C>T
XM_011523918.2:c.6220C>T	XP_011522220.1:p.Arg2074Cys
XM_017024714.2:c.6220C>T	XP_016880203.1:p.Arg2074Cys
XM_017024715.2:c.6283C>T	XP_016880204.1:p.Arg2095Cys
XM_024450781.1:c.6213+1286C>T	XP_024306549.1:n.6213+1286C>T
NM_016239.4:c.6280C>T MANE Select	NP_057323.3:p.Arg2094Cys