Canonical Allele Identifier: CA498203934

Gene: MYO15A

Linked Data

• dbSNP Id: rs2046739750
• gnomAD v4: 17-18159344-C-T
• MyVariant Identifiers: chr17:g.18062658C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159344C>T , CM000679.2:g.18159344C>T	GRCh38
NC_000017.10:g.18062658C>T , CM000679.1:g.18062658C>T	GRCh37
NC_000017.9:g.18003383C>T	NCBI36
NG_011634.1:g.55639C>T
NG_011634.2:g.55639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1564C>T
ENST00000643693.1:n.1028C>T
ENST00000644795.1:c.1018C>T	ENSP00000495720.1:p.Leu340=
ENST00000646782.1:n.1960C>T
ENST00000647165.2:c.9226C>T MANE Select	ENSP00000495481.1:p.Leu3076=
ENST00000651214.1:n.1731C>T
ENST00000205890.9:c.9226C>T	ENSP00000205890.5:p.Leu3076=
ENST00000418233.7:c.1018C>T	ENSP00000408800.3:p.Leu340=
ENST00000433411.7:n.163C>T
ENST00000445289.6:n.316+1444C>T
ENST00000556535.5:c.88C>T	ENSP00000451782.1:p.Leu30=
ENST00000557190.5:n.128C>T
ENST00000557655.5:c.88C>T	ENSP00000451925.1:p.Leu30=
ENST00000578472.5:c.88C>T	ENSP00000467989.1:p.Leu30=
ENST00000615845.4:c.9226C>T	ENSP00000481642.1:p.Leu3076=
NM_016239.3:c.9226C>T	NP_057323.3:p.Leu3076=
XM_011523921.1:c.9220C>T	XP_011522223.1:p.Leu3074=
XM_017024714.2:c.9166C>T	XP_016880203.1:p.Leu3056=
XM_017024715.2:c.9229C>T	XP_016880204.1:p.Leu3077=
NM_016239.4:c.9226C>T MANE Select	NP_057323.3:p.Leu3076=