Canonical Allele Identifier: CA527600366
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2442266
ClinVar RCV Id: RCV003148595
dbSNP Id: rs1488630267
gnomAD v2: 1-171605757-TG-T
gnomAD v4: 1-171636617-TG-T
MyVariant Identifiers: chr1:g.171605758del (hg19) chr1:g.171636618del (hg38)
ERepo: CA527600366/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636621del , CM000663.2:g.171636621del GRCh38
NC_000001.10:g.171605761del , CM000663.1:g.171605761del GRCh37
NC_000001.9:g.169872384del NCBI36
NG_008859.1:g.21016del

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.822del (MYOC) MANE Select ENSP00000037502.5:p.Lys275SerfsTer?
ENST00000637303.1:c.235-2009del (MYOCOS) ENSP00000490048.1:n.235-2009del
ENST00000638471.1:c.*160del (MYOC) ENSP00000491206.1:n.*160del
ENST00000037502.10:c.822del (MYOC) ENSP00000037502.5:p.Lys275SerfsTer?
ENST00000614688.1:c.822del (MYOC) ENSP00000478680.1:p.Lys275SerfsTer?
NM_000261.1:c.822del (MYOC) NP_000252.1:p.Lys275SerfsTer?
NM_000261.2:c.822del (MYOC) MANE Select NP_000252.1:p.Lys275SerfsTer?
Search 100 bp 5'
Search 100 bp 3'