Canonical Allele Identifier: CA398606795

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18049304T>A (hg19) ; chr17:g.18145990T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18145990T>A , CM000679.2:g.18145990T>A	GRCh38
NC_000017.10:g.18049304T>A , CM000679.1:g.18049304T>A	GRCh37
NC_000017.9:g.17990029T>A	NCBI36
NG_011634.1:g.42285T>A
NG_011634.2:g.42285T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6392T>A MANE Select	ENSP00000495481.1:p.Leu2131Gln
ENST00000205890.9:c.6392T>A	ENSP00000205890.5:p.Leu2131Gln
ENST00000615845.4:c.6392T>A	ENSP00000481642.1:p.Leu2131Gln
NM_016239.3:c.6392T>A	NP_057323.3:p.Leu2131Gln
XM_011523917.1:c.6332T>A	XP_011522219.1:p.Leu2111Gln
XM_011523918.1:c.6332T>A	XP_011522220.1:p.Leu2111Gln
XM_011523921.1:c.6386T>A	XP_011522223.1:p.Leu2129Gln
XR_934037.1:n.6991T>A
XR_934038.1:n.6991T>A
XM_011523918.2:c.6332T>A	XP_011522220.1:p.Leu2111Gln
XM_017024714.2:c.6332T>A	XP_016880203.1:p.Leu2111Gln
XM_017024715.2:c.6395T>A	XP_016880204.1:p.Leu2132Gln
XM_024450781.1:c.6213+1398T>A	XP_024306549.1:n.6213+1398T>A
NM_016239.4:c.6392T>A MANE Select	NP_057323.3:p.Leu2131Gln