Canonical Allele Identifier: CA8424583

Gene: MYO15A

Linked Data

• dbSNP Id: rs761409791
• ExAC: 17:18049291 A / G
• gnomAD v2: 17-18049291-A-G
• gnomAD v4: 17-18145977-A-G
• MyVariant Identifiers: chr17:g.18049291A>G (hg19) ; chr17:g.18145977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145977A>G , CM000679.2:g.18145977A>G	GRCh38
NC_000017.10:g.18049291A>G , CM000679.1:g.18049291A>G	GRCh37
NC_000017.9:g.17990016A>G	NCBI36
NG_011634.1:g.42272A>G
NG_011634.2:g.42272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6379A>G MANE Select	ENSP00000495481.1:p.Ile2127Val
ENST00000205890.9:c.6379A>G	ENSP00000205890.5:p.Ile2127Val
ENST00000615845.4:c.6379A>G	ENSP00000481642.1:p.Ile2127Val
NM_016239.3:c.6379A>G	NP_057323.3:p.Ile2127Val
XM_011523917.1:c.6319A>G	XP_011522219.1:p.Ile2107Val
XM_011523918.1:c.6319A>G	XP_011522220.1:p.Ile2107Val
XM_011523921.1:c.6373A>G	XP_011522223.1:p.Ile2125Val
XR_934037.1:n.6978A>G
XR_934038.1:n.6978A>G
XM_011523918.2:c.6319A>G	XP_011522220.1:p.Ile2107Val
XM_017024714.2:c.6319A>G	XP_016880203.1:p.Ile2107Val
XM_017024715.2:c.6382A>G	XP_016880204.1:p.Ile2128Val
XM_024450781.1:c.6213+1385A>G	XP_024306549.1:n.6213+1385A>G
NM_016239.4:c.6379A>G MANE Select	NP_057323.3:p.Ile2127Val