Canonical Allele Identifier: CA398633969

Gene: MYO15A

Linked Data

• ClinVar Variation Id: 2241640
• ClinVar RCV Id: RCV002724238
• dbSNP Id: rs1388818424
• gnomAD v2: 17-18062632-T-G
• gnomAD v3: 17-18159318-T-G
• gnomAD v4: 17-18159318-T-G
• MyVariant Identifiers: chr17:g.18062632T>G (hg19) ; chr17:g.18159318T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159318T>G , CM000679.2:g.18159318T>G	GRCh38
NC_000017.10:g.18062632T>G , CM000679.1:g.18062632T>G	GRCh37
NC_000017.9:g.18003357T>G	NCBI36
NG_011634.1:g.55613T>G
NG_011634.2:g.55613T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1538T>G
ENST00000643693.1:n.1002T>G
ENST00000644795.1:c.992T>G	ENSP00000495720.1:p.Leu331Arg
ENST00000646782.1:n.1934T>G
ENST00000647165.2:c.9200T>G MANE Select	ENSP00000495481.1:p.Leu3067Arg
ENST00000651214.1:n.1705T>G
ENST00000205890.9:c.9200T>G	ENSP00000205890.5:p.Leu3067Arg
ENST00000418233.7:c.992T>G	ENSP00000408800.3:p.Leu331Arg
ENST00000433411.7:n.137T>G
ENST00000445289.6:n.316+1418T>G
ENST00000556535.5:c.62T>G	ENSP00000451782.1:p.Leu21Arg
ENST00000557190.5:n.102T>G
ENST00000557655.5:c.62T>G	ENSP00000451925.1:p.Leu21Arg
ENST00000578472.5:c.62T>G	ENSP00000467989.1:p.Leu21Arg
ENST00000615845.4:c.9200T>G	ENSP00000481642.1:p.Leu3067Arg
NM_016239.3:c.9200T>G	NP_057323.3:p.Leu3067Arg
XM_011523921.1:c.9194T>G	XP_011522223.1:p.Leu3065Arg
XM_017024714.2:c.9140T>G	XP_016880203.1:p.Leu3047Arg
XM_017024715.2:c.9203T>G	XP_016880204.1:p.Leu3068Arg
NM_016239.4:c.9200T>G MANE Select	NP_057323.3:p.Leu3067Arg