Canonical Allele Identifier: CA398606864

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18049320G>T (hg19) ; chr17:g.18146006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18146006G>T , CM000679.2:g.18146006G>T	GRCh38
NC_000017.10:g.18049320G>T , CM000679.1:g.18049320G>T	GRCh37
NC_000017.9:g.17990045G>T	NCBI36
NG_011634.1:g.42301G>T
NG_011634.2:g.42301G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6408G>T MANE Select	ENSP00000495481.1:p.Trp2136Cys
ENST00000205890.9:c.6408G>T	ENSP00000205890.5:p.Trp2136Cys
ENST00000615845.4:c.6408G>T	ENSP00000481642.1:p.Trp2136Cys
NM_016239.3:c.6408G>T	NP_057323.3:p.Trp2136Cys
XM_011523917.1:c.6348G>T	XP_011522219.1:p.Trp2116Cys
XM_011523918.1:c.6342+6G>T	XP_011522220.1:n.6342+6G>T
XM_011523921.1:c.6402G>T	XP_011522223.1:p.Trp2134Cys
XR_934037.1:n.7007G>T
XR_934038.1:n.7007G>T
XM_011523918.2:c.6342+6G>T	XP_011522220.1:n.6342+6G>T
XM_017024714.2:c.6348G>T	XP_016880203.1:p.Trp2116Cys
XM_017024715.2:c.6411G>T	XP_016880204.1:p.Trp2137Cys
XM_024450781.1:c.6213+1414G>T	XP_024306549.1:n.6213+1414G>T
NM_016239.4:c.6408G>T MANE Select	NP_057323.3:p.Trp2136Cys