Canonical Allele Identifier: CA8424935
Community Standard Title: NM_016239.4(MYO15A):c.7762C>T (p.Arg2588Trp)
Gene: MYO15A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18151502C>T , CM000679.2:g.18151502C>T GRCh38
NC_000017.10:g.18054816C>T , CM000679.1:g.18054816C>T GRCh37
NC_000017.9:g.17995541C>T NCBI36
NG_011634.1:g.47797C>T
NG_011634.2:g.47797C>T

Transcript Alleles

HGVS Amino-acid Change
NM_016239.4:c.7762C>T MANE Select NP_057323.3:p.Arg2588Trp
ENST00000647165.2:c.7762C>T MANE Select ENSP00000495481.1:p.Arg2588Trp
NM_016239.3:c.7762C>T NP_057323.3:p.Arg2588Trp
ENST00000205890.9:c.7762C>T ENSP00000205890.5:p.Arg2588Trp
ENST00000615845.4:c.7762C>T ENSP00000481642.1:p.Arg2588Trp
XM_011523921.1:c.7756C>T XP_011522223.1:p.Arg2586Trp
XM_017024714.2:c.7702C>T XP_016880203.1:p.Arg2568Trp
XM_017024715.2:c.7765C>T XP_016880204.1:p.Arg2589Trp
XR_934293.1:n.434+101G>A
XR_934293.2:n.377+101G>A
XR_934294.1:n.434+101G>A
XR_934294.2:n.377+101G>A
XR_934295.1:n.253+101G>A