Canonical Allele Identifier: CA254015
Gene: MYO15A HGNC NCBI

Linked Data

ClinVar Variation Id: 6952
ClinVar RCV Id: RCV000007367
dbSNP Id: rs121908967

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.18151859A>T , CM000679.2:g.18151859A>T GRCh38
NC_000017.10:g.18055173A>T , CM000679.1:g.18055173A>T GRCh37
NC_000017.9:g.17995898A>T NCBI36
NG_011634.1:g.48154A>T
NG_011634.2:g.48154A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647165.2:c.7801A>T MANE Select ENSP00000495481.1:p.Lys2601Ter
ENST00000205890.9:c.7801A>T ENSP00000205890.5:p.Lys2601Ter
ENST00000615845.4:c.7801A>T ENSP00000481642.1:p.Lys2601Ter
NM_016239.3:c.7801A>T NP_057323.3:p.Lys2601Ter
XM_011523921.1:c.7795A>T XP_011522223.1:p.Lys2599Ter
XR_934293.1:n.178T>A
XR_934294.1:n.178T>A
XR_934295.1:n.131-134T>A
XM_017024714.2:c.7741A>T XP_016880203.1:p.Lys2581Ter
XM_017024715.2:c.7804A>T XP_016880204.1:p.Lys2602Ter
XR_934293.2:n.121T>A
XR_934294.2:n.121T>A
NM_016239.4:c.7801A>T MANE Select NP_057323.3:p.Lys2601Ter