Canonical Allele Identifier: CA1244034

Linked Data

ClinVar Variation Id: 1686784
ClinVar RCV Id: RCV002248289
dbSNP Id: rs576458696

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636084del , CM000663.2:g.171636084del GRCh38
NC_000001.10:g.171605224del , CM000663.1:g.171605224del GRCh37
NC_000001.9:g.169871847del NCBI36
NG_008859.1:g.21551del

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1357del (MYOC) MANE Select ENSP00000037502.5:p.Tyr453MetfsTer11
ENST00000637303.1:c.235-2546del (MYOCOS) ENSP00000490048.1:n.235-2546del
ENST00000638471.1:c.*695del (MYOC) ENSP00000491206.1:n.*695del
ENST00000037502.10:c.1357del (MYOC) ENSP00000037502.5:p.Tyr453MetfsTer11
ENST00000614688.1:c.*321del (MYOC) ENSP00000478680.1:n.*321del
NM_000261.1:c.1357del (MYOC) NP_000252.1:p.Tyr453MetfsTer11
NM_000261.2:c.1357del (MYOC) MANE Select NP_000252.1:p.Tyr453MetfsTer11