Canonical Allele Identifier: CA2649105896
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635749-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635749A>G , CM000663.2:g.171635749A>G GRCh38
NC_000001.10:g.171604889A>G , CM000663.1:g.171604889A>G GRCh37
NC_000001.9:g.169871512A>G NCBI36
NG_008859.1:g.21885T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*176T>C (MYOC) MANE Select ENSP00000037502.5:n.*176T>C
ENST00000637303.1:c.235-2881A>G (MYOCOS) ENSP00000490048.1:n.235-2881A>G
ENST00000638471.1:c.*1029T>C (MYOC) ENSP00000491206.1:n.*1029T>C
ENST00000037502.10:c.*176T>C (MYOC) ENSP00000037502.5:n.*176T>C
ENST00000614688.1:c.*655T>C (MYOC) ENSP00000478680.1:n.*655T>C
NM_000261.1:c.*176T>C (MYOC) NP_000252.1:n.*176T>C
NM_000261.2:c.*176T>C (MYOC) MANE Select NP_000252.1:n.*176T>C
Search 100 bp 5'
Search 100 bp 3'