Canonical Allele Identifier: CA2746620317

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635771A>G , CM000663.2:g.171635771A>G GRCh38
NC_000001.10:g.171604911A>G , CM000663.1:g.171604911A>G GRCh37
NC_000001.9:g.169871534A>G NCBI36
NG_008859.1:g.21863T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*154T>C (MYOC) MANE Select ENSP00000037502.5:n.*154T>C
ENST00000637303.1:c.235-2859A>G (MYOCOS) ENSP00000490048.1:n.235-2859A>G
ENST00000638471.1:c.*1007T>C (MYOC) ENSP00000491206.1:n.*1007T>C
ENST00000037502.10:c.*154T>C (MYOC) ENSP00000037502.5:n.*154T>C
ENST00000614688.1:c.*633T>C (MYOC) ENSP00000478680.1:n.*633T>C
NM_000261.1:c.*154T>C (MYOC) NP_000252.1:n.*154T>C
NM_000261.2:c.*154T>C (MYOC) MANE Select NP_000252.1:n.*154T>C