Canonical Allele Identifier: CA8425413

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2820257
• ClinVar RCV Id: RCV003723076
• dbSNP Id: rs756188259
• ExAC: 17:18062594 C / T
• gnomAD v2: 17-18062594-C-T
• gnomAD v4: 17-18159280-C-T
• MyVariant Identifiers: chr17:g.18062594C>T (hg19) ; chr17:g.18159280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159280C>T , CM000679.2:g.18159280C>T	GRCh38
NC_000017.10:g.18062594C>T , CM000679.1:g.18062594C>T	GRCh37
NC_000017.9:g.18003319C>T	NCBI36
NG_011634.1:g.55575C>T
NG_011634.2:g.55575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1500C>T
ENST00000643693.1:n.964C>T
ENST00000644795.1:c.954C>T	ENSP00000495720.1:p.Pro318=
ENST00000646782.1:n.1896C>T
ENST00000647165.2:c.9162C>T MANE Select	ENSP00000495481.1:p.Pro3054=
ENST00000651214.1:n.1667C>T
ENST00000205890.9:c.9162C>T	ENSP00000205890.5:p.Pro3054=
ENST00000418233.7:c.954C>T	ENSP00000408800.3:p.Pro318=
ENST00000433411.7:n.99C>T
ENST00000445289.6:n.316+1380C>T
ENST00000556535.5:c.24C>T	ENSP00000451782.1:p.Pro8=
ENST00000557190.5:n.64C>T
ENST00000557655.5:c.24C>T	ENSP00000451925.1:p.Pro8=
ENST00000578472.5:c.24C>T	ENSP00000467989.1:p.Pro8=
ENST00000615845.4:c.9162C>T	ENSP00000481642.1:p.Pro3054=
NM_016239.3:c.9162C>T	NP_057323.3:p.Pro3054=
XM_011523921.1:c.9156C>T	XP_011522223.1:p.Pro3052=
XM_017024714.2:c.9102C>T	XP_016880203.1:p.Pro3034=
XM_017024715.2:c.9165C>T	XP_016880204.1:p.Pro3055=
NM_016239.4:c.9162C>T MANE Select	NP_057323.3:p.Pro3054=