Canonical Allele Identifier: CA8425417

Gene: MYO15A

Linked Data

• dbSNP Id: rs757150793
• ExAC: 17:18062618 C / G
• gnomAD v2: 17-18062618-C-G
• gnomAD v4: 17-18159304-C-G
• MyVariant Identifiers: chr17:g.18062618C>G (hg19) ; chr17:g.18159304C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159304C>G , CM000679.2:g.18159304C>G	GRCh38
NC_000017.10:g.18062618C>G , CM000679.1:g.18062618C>G	GRCh37
NC_000017.9:g.18003343C>G	NCBI36
NG_011634.1:g.55599C>G
NG_011634.2:g.55599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1524C>G
ENST00000643693.1:n.988C>G
ENST00000644795.1:c.978C>G	ENSP00000495720.1:p.Leu326=
ENST00000646782.1:n.1920C>G
ENST00000647165.2:c.9186C>G MANE Select	ENSP00000495481.1:p.Leu3062=
ENST00000651214.1:n.1691C>G
ENST00000205890.9:c.9186C>G	ENSP00000205890.5:p.Leu3062=
ENST00000418233.7:c.978C>G	ENSP00000408800.3:p.Leu326=
ENST00000433411.7:n.123C>G
ENST00000445289.6:n.316+1404C>G
ENST00000556535.5:c.48C>G	ENSP00000451782.1:p.Leu16=
ENST00000557190.5:n.88C>G
ENST00000557655.5:c.48C>G	ENSP00000451925.1:p.Leu16=
ENST00000578472.5:c.48C>G	ENSP00000467989.1:p.Leu16=
ENST00000615845.4:c.9186C>G	ENSP00000481642.1:p.Leu3062=
NM_016239.3:c.9186C>G	NP_057323.3:p.Leu3062=
XM_011523921.1:c.9180C>G	XP_011522223.1:p.Leu3060=
XM_017024714.2:c.9126C>G	XP_016880203.1:p.Leu3042=
XM_017024715.2:c.9189C>G	XP_016880204.1:p.Leu3063=
NM_016239.4:c.9186C>G MANE Select	NP_057323.3:p.Leu3062=