Canonical Allele Identifier: CA343719966
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621693A>C (hg19) chr1:g.171652553A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652553A>C , CM000663.2:g.171652553A>C GRCh38
NC_000001.10:g.171621693A>C , CM000663.1:g.171621693A>C GRCh37
NC_000001.9:g.169888316A>C NCBI36
NG_008859.1:g.5081T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.59T>G MANE Select ENSP00000037502.5:p.Leu20Arg
ENST00000638471.1:c.59T>G ENSP00000491206.1:p.Leu20Arg
ENST00000037502.10:c.59T>G ENSP00000037502.5:p.Leu20Arg
ENST00000614688.1:c.59T>G ENSP00000478680.1:p.Leu20Arg
NM_000261.1:c.59T>G NP_000252.1:p.Leu20Arg
NM_000261.2:c.59T>G MANE Select NP_000252.1:p.Leu20Arg
Search 100 bp 5'
Search 100 bp 3'