Canonical Allele Identifier: CA2746620316

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635760C>A , CM000663.2:g.171635760C>A GRCh38
NC_000001.10:g.171604900C>A , CM000663.1:g.171604900C>A GRCh37
NC_000001.9:g.169871523C>A NCBI36
NG_008859.1:g.21874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*165G>T (MYOC) MANE Select ENSP00000037502.5:n.*165G>T
ENST00000637303.1:c.235-2870C>A (MYOCOS) ENSP00000490048.1:n.235-2870C>A
ENST00000638471.1:c.*1018G>T (MYOC) ENSP00000491206.1:n.*1018G>T
ENST00000037502.10:c.*165G>T (MYOC) ENSP00000037502.5:n.*165G>T
ENST00000614688.1:c.*644G>T (MYOC) ENSP00000478680.1:n.*644G>T
NM_000261.1:c.*165G>T (MYOC) NP_000252.1:n.*165G>T
NM_000261.2:c.*165G>T (MYOC) MANE Select NP_000252.1:n.*165G>T