Canonical Allele Identifier: CA398607124

Gene: MYO15A

Linked Data

• MyVariant Identifiers: chr17:g.18049356G>T (hg19) ; chr17:g.18146042G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18146042G>T , CM000679.2:g.18146042G>T	GRCh38
NC_000017.10:g.18049356G>T , CM000679.1:g.18049356G>T	GRCh37
NC_000017.9:g.17990081G>T	NCBI36
NG_011634.1:g.42337G>T
NG_011634.2:g.42337G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647165.2:c.6444G>T MANE Select	ENSP00000495481.1:p.Trp2148Cys
ENST00000205890.9:c.6444G>T	ENSP00000205890.5:p.Trp2148Cys
ENST00000578999.1:n.29G>T
ENST00000615845.4:c.6444G>T	ENSP00000481642.1:p.Trp2148Cys
NM_016239.3:c.6444G>T	NP_057323.3:p.Trp2148Cys
XM_011523917.1:c.6384G>T	XP_011522219.1:p.Trp2128Cys
XM_011523918.1:c.6342+42G>T	XP_011522220.1:n.6342+42G>T
XM_011523921.1:c.6438G>T	XP_011522223.1:p.Trp2146Cys
XR_934037.1:n.7043G>T
XR_934038.1:n.7043G>T
XM_011523918.2:c.6342+42G>T	XP_011522220.1:n.6342+42G>T
XM_017024714.2:c.6384G>T	XP_016880203.1:p.Trp2128Cys
XM_017024715.2:c.6447G>T	XP_016880204.1:p.Trp2149Cys
XM_024450781.1:c.6213+1450G>T	XP_024306549.1:n.6213+1450G>T
NM_016239.4:c.6444G>T MANE Select	NP_057323.3:p.Trp2148Cys