Canonical Allele Identifier: CA343719943
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621688G>C (hg19) chr1:g.171652548G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652548G>C , CM000663.2:g.171652548G>C GRCh38
NC_000001.10:g.171621688G>C , CM000663.1:g.171621688G>C GRCh37
NC_000001.9:g.169888311G>C NCBI36
NG_008859.1:g.5086C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.64C>G MANE Select ENSP00000037502.5:p.Leu22Val
ENST00000638471.1:c.64C>G ENSP00000491206.1:p.Leu22Val
ENST00000037502.10:c.64C>G ENSP00000037502.5:p.Leu22Val
ENST00000614688.1:c.64C>G ENSP00000478680.1:p.Leu22Val
NM_000261.1:c.64C>G NP_000252.1:p.Leu22Val
NM_000261.2:c.64C>G MANE Select NP_000252.1:p.Leu22Val
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