Canonical Allele Identifier: CA398633617

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18062590C>T (hg19) ; chr17:g.18159276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159276C>T , CM000679.2:g.18159276C>T	GRCh38
NC_000017.10:g.18062590C>T , CM000679.1:g.18062590C>T	GRCh37
NC_000017.9:g.18003315C>T	NCBI36
NG_011634.1:g.55571C>T
NG_011634.2:g.55571C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000642418.1:n.1496C>T
ENST00000643693.1:n.960C>T
ENST00000644795.1:c.950C>T	ENSP00000495720.1:p.Thr317Ile
ENST00000646782.1:n.1892C>T
ENST00000647165.2:c.9158C>T MANE Select	ENSP00000495481.1:p.Thr3053Ile
ENST00000651214.1:n.1663C>T
ENST00000205890.9:c.9158C>T	ENSP00000205890.5:p.Thr3053Ile
ENST00000418233.7:c.950C>T	ENSP00000408800.3:p.Thr317Ile
ENST00000433411.7:n.95C>T
ENST00000445289.6:n.316+1376C>T
ENST00000556535.5:c.20C>T	ENSP00000451782.1:p.Thr7Ile
ENST00000557190.5:n.60C>T
ENST00000557655.5:c.20C>T	ENSP00000451925.1:p.Thr7Ile
ENST00000578472.5:c.20C>T	ENSP00000467989.1:p.Thr7Ile
ENST00000615845.4:c.9158C>T	ENSP00000481642.1:p.Thr3053Ile
NM_016239.3:c.9158C>T	NP_057323.3:p.Thr3053Ile
XM_011523921.1:c.9152C>T	XP_011522223.1:p.Thr3051Ile
XM_017024714.2:c.9098C>T	XP_016880203.1:p.Thr3033Ile
XM_017024715.2:c.9161C>T	XP_016880204.1:p.Thr3054Ile
NM_016239.4:c.9158C>T MANE Select	NP_057323.3:p.Thr3053Ile