Canonical Allele Identifier: CA398606512

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2116145
• ClinVar RCV Id: RCV003034858
• MyVariant Identifiers: chr17:g.18049237T>C (hg19) ; chr17:g.18145923T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145923T>C , CM000679.2:g.18145923T>C	GRCh38
NC_000017.10:g.18049237T>C , CM000679.1:g.18049237T>C	GRCh37
NC_000017.9:g.17989962T>C	NCBI36
NG_011634.1:g.42218T>C
NG_011634.2:g.42218T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6325T>C MANE Select	ENSP00000495481.1:p.Phe2109Leu
ENST00000205890.9:c.6325T>C	ENSP00000205890.5:p.Phe2109Leu
ENST00000615845.4:c.6325T>C	ENSP00000481642.1:p.Phe2109Leu
NM_016239.3:c.6325T>C	NP_057323.3:p.Phe2109Leu
XM_011523917.1:c.6265T>C	XP_011522219.1:p.Phe2089Leu
XM_011523918.1:c.6265T>C	XP_011522220.1:p.Phe2089Leu
XM_011523921.1:c.6319T>C	XP_011522223.1:p.Phe2107Leu
XR_934037.1:n.6924T>C
XR_934038.1:n.6924T>C
XM_011523918.2:c.6265T>C	XP_011522220.1:p.Phe2089Leu
XM_017024714.2:c.6265T>C	XP_016880203.1:p.Phe2089Leu
XM_017024715.2:c.6328T>C	XP_016880204.1:p.Phe2110Leu
XM_024450781.1:c.6213+1331T>C	XP_024306549.1:n.6213+1331T>C
NM_016239.4:c.6325T>C MANE Select	NP_057323.3:p.Phe2109Leu