Canonical Allele Identifier: CA398633636

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 1462979
• ClinVar RCV Id: RCV001960825
• dbSNP Id: rs2142393163
• gnomAD v4: 17-18159281-C-A
• MyVariant Identifiers: chr17:g.18062595C>A (hg19) ; chr17:g.18159281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159281C>A , CM000679.2:g.18159281C>A	GRCh38
NC_000017.10:g.18062595C>A , CM000679.1:g.18062595C>A	GRCh37
NC_000017.9:g.18003320C>A	NCBI36
NG_011634.1:g.55576C>A
NG_011634.2:g.55576C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1501C>A
ENST00000643693.1:n.965C>A
ENST00000644795.1:c.955C>A	ENSP00000495720.1:p.Leu319Ile
ENST00000646782.1:n.1897C>A
ENST00000647165.2:c.9163C>A MANE Select	ENSP00000495481.1:p.Leu3055Ile
ENST00000651214.1:n.1668C>A
ENST00000205890.9:c.9163C>A	ENSP00000205890.5:p.Leu3055Ile
ENST00000418233.7:c.955C>A	ENSP00000408800.3:p.Leu319Ile
ENST00000433411.7:n.100C>A
ENST00000445289.6:n.316+1381C>A
ENST00000556535.5:c.25C>A	ENSP00000451782.1:p.Leu9Ile
ENST00000557190.5:n.65C>A
ENST00000557655.5:c.25C>A	ENSP00000451925.1:p.Leu9Ile
ENST00000578472.5:c.25C>A	ENSP00000467989.1:p.Leu9Ile
ENST00000615845.4:c.9163C>A	ENSP00000481642.1:p.Leu3055Ile
NM_016239.3:c.9163C>A	NP_057323.3:p.Leu3055Ile
XM_011523921.1:c.9157C>A	XP_011522223.1:p.Leu3053Ile
XM_017024714.2:c.9103C>A	XP_016880203.1:p.Leu3035Ile
XM_017024715.2:c.9166C>A	XP_016880204.1:p.Leu3056Ile
NM_016239.4:c.9163C>A MANE Select	NP_057323.3:p.Leu3055Ile