Canonical Allele Identifier: CA343724152

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636187T>A , CM000663.2:g.171636187T>A GRCh38
NC_000001.10:g.171605327T>A , CM000663.1:g.171605327T>A GRCh37
NC_000001.9:g.169871950T>A NCBI36
NG_008859.1:g.21447A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1253A>T (MYOC) MANE Select ENSP00000037502.5:p.Glu418Val
ENST00000637303.1:c.235-2443T>A (MYOCOS) ENSP00000490048.1:n.235-2443T>A
ENST00000638471.1:c.*591A>T (MYOC) ENSP00000491206.1:n.*591A>T
ENST00000037502.10:c.1253A>T (MYOC) ENSP00000037502.5:p.Glu418Val
ENST00000614688.1:c.*217A>T (MYOC) ENSP00000478680.1:n.*217A>T
NM_000261.1:c.1253A>T (MYOC) NP_000252.1:p.Glu418Val
NM_000261.2:c.1253A>T (MYOC) MANE Select NP_000252.1:p.Glu418Val