Canonical Allele Identifier: CA2649106595
Gene: MYOC HGNC NCBI

Linked Data

gnomAD v4: 1-171652178-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652180dup , CM000663.2:g.171652180dup GRCh38
NC_000001.10:g.171621320dup , CM000663.1:g.171621320dup GRCh37
NC_000001.9:g.169887943dup NCBI36
NG_008859.1:g.5455dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.433dup MANE Select ENSP00000037502.5:p.Leu145ProfsTer20
ENST00000638471.1:c.130+303dup ENSP00000491206.1:n.130+303dup
ENST00000037502.10:c.433dup ENSP00000037502.5:p.Leu145ProfsTer20
ENST00000614688.1:c.433dup ENSP00000478680.1:p.Leu145ProfsTer20
NM_000261.1:c.433dup NP_000252.1:p.Leu145ProfsTer20
NM_000261.2:c.433dup MANE Select NP_000252.1:p.Leu145ProfsTer20
Search 100 bp 5'
Search 100 bp 3'