Canonical Allele Identifier: CA398641943

Gene: MYO15A

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.18166449G>C , CM000679.2:g.18166449G>C	GRCh38
NC_000017.10:g.18069763G>C , CM000679.1:g.18069763G>C	GRCh37
NC_000017.9:g.18010488G>C	NCBI36
NG_011634.1:g.62744G>C
NG_011634.2:g.62744G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642418.1:n.2140G>C
ENST00000643693.1:n.1678G>C
ENST00000644795.1:c.1668G>C	ENSP00000495720.1:p.Trp556Cys
ENST00000646782.1:n.2610G>C
ENST00000647165.2:c.9876G>C MANE Select	ENSP00000495481.1:p.Trp3292Cys
ENST00000651214.1:n.2307G>C
ENST00000205890.9:c.9876G>C	ENSP00000205890.5:p.Trp3292Cys
ENST00000418233.7:c.1668G>C	ENSP00000408800.3:p.Trp556Cys
ENST00000433411.7:n.1326G>C
ENST00000445289.6:n.718-1141G>C
ENST00000578575.1:c.351-1141G>C
ENST00000579848.6:c.502+2611G>C	ENSP00000465910.1:n.502+2611G>C
ENST00000615845.4:c.9876G>C	ENSP00000481642.1:p.Trp3292Cys
NM_016239.3:c.9876G>C	NP_057323.3:p.Trp3292Cys
XM_011523921.1:c.9870G>C	XP_011522223.1:p.Trp3290Cys
XM_017024714.2:c.9816G>C	XP_016880203.1:p.Trp3272Cys
XM_017024715.2:c.9879G>C	XP_016880204.1:p.Trp3293Cys
NM_016239.4:c.9876G>C MANE Select	NP_057323.3:p.Trp3292Cys