Canonical Allele Identifier: CA343724581
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2575093
ClinVar RCV Id: RCV003320018
MyVariant Identifiers: chr1:g.171605444A>G (hg19) chr1:g.171636304A>G (hg38)
ERepo: CA343724581/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636304A>G , CM000663.2:g.171636304A>G GRCh38
NC_000001.10:g.171605444A>G , CM000663.1:g.171605444A>G GRCh37
NC_000001.9:g.169872067A>G NCBI36
NG_008859.1:g.21330T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1136T>C (MYOC) MANE Select ENSP00000037502.5:p.Ile379Thr
ENST00000637303.1:c.235-2326A>G (MYOCOS) ENSP00000490048.1:n.235-2326A>G
ENST00000638471.1:c.*474T>C (MYOC) ENSP00000491206.1:n.*474T>C
ENST00000037502.10:c.1136T>C (MYOC) ENSP00000037502.5:p.Ile379Thr
ENST00000614688.1:c.*100T>C (MYOC) ENSP00000478680.1:n.*100T>C
NM_000261.1:c.1136T>C (MYOC) NP_000252.1:p.Ile379Thr
NM_000261.2:c.1136T>C (MYOC) MANE Select NP_000252.1:p.Ile379Thr
Search 100 bp 5'
Search 100 bp 3'