Canonical Allele Identifier: CA8425420

Gene: MYO15A

Linked Data

• dbSNP Id: rs771837649
• ExAC: 17:18062624 C / T
• gnomAD v2: 17-18062624-C-T
• gnomAD v4: 17-18159310-C-T
• MyVariant Identifiers: chr17:g.18062624C>T (hg19) ; chr17:g.18159310C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18159310C>T , CM000679.2:g.18159310C>T	GRCh38
NC_000017.10:g.18062624C>T , CM000679.1:g.18062624C>T	GRCh37
NC_000017.9:g.18003349C>T	NCBI36
NG_011634.1:g.55605C>T
NG_011634.2:g.55605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.1530C>T
ENST00000643693.1:n.994C>T
ENST00000644795.1:c.984C>T	ENSP00000495720.1:p.Asp328=
ENST00000646782.1:n.1926C>T
ENST00000647165.2:c.9192C>T MANE Select	ENSP00000495481.1:p.Asp3064=
ENST00000651214.1:n.1697C>T
ENST00000205890.9:c.9192C>T	ENSP00000205890.5:p.Asp3064=
ENST00000418233.7:c.984C>T	ENSP00000408800.3:p.Asp328=
ENST00000433411.7:n.129C>T
ENST00000445289.6:n.316+1410C>T
ENST00000556535.5:c.54C>T	ENSP00000451782.1:p.Asp18=
ENST00000557190.5:n.94C>T
ENST00000557655.5:c.54C>T	ENSP00000451925.1:p.Asp18=
ENST00000578472.5:c.54C>T	ENSP00000467989.1:p.Asp18=
ENST00000615845.4:c.9192C>T	ENSP00000481642.1:p.Asp3064=
NM_016239.3:c.9192C>T	NP_057323.3:p.Asp3064=
XM_011523921.1:c.9186C>T	XP_011522223.1:p.Asp3062=
XM_017024714.2:c.9132C>T	XP_016880203.1:p.Asp3044=
XM_017024715.2:c.9195C>T	XP_016880204.1:p.Asp3065=
NM_016239.4:c.9192C>T MANE Select	NP_057323.3:p.Asp3064=