Canonical Allele Identifier: CA343726232
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2429759
ClinVar RCV Id: RCV003127212
MyVariant Identifiers: chr1:g.171605816A>G (hg19) chr1:g.171636676A>G (hg38)
ERepo: CA343726232/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636676A>G , CM000663.2:g.171636676A>G GRCh38
NC_000001.10:g.171605816A>G , CM000663.1:g.171605816A>G GRCh37
NC_000001.9:g.169872439A>G NCBI36
NG_008859.1:g.20958T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.764T>C (MYOC) MANE Select ENSP00000037502.5:p.Leu255Pro
ENST00000637303.1:c.235-1954A>G (MYOCOS) ENSP00000490048.1:n.235-1954A>G
ENST00000638471.1:c.*102T>C (MYOC) ENSP00000491206.1:n.*102T>C
ENST00000037502.10:c.764T>C (MYOC) ENSP00000037502.5:p.Leu255Pro
ENST00000614688.1:c.764T>C (MYOC) ENSP00000478680.1:p.Leu255Pro
NM_000261.1:c.764T>C (MYOC) NP_000252.1:p.Leu255Pro
NM_000261.2:c.764T>C (MYOC) MANE Select NP_000252.1:p.Leu255Pro
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