Canonical Allele Identifier: CA343724555

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636298A>C , CM000663.2:g.171636298A>C GRCh38
NC_000001.10:g.171605438A>C , CM000663.1:g.171605438A>C GRCh37
NC_000001.9:g.169872061A>C NCBI36
NG_008859.1:g.21336T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1142T>G (MYOC) MANE Select ENSP00000037502.5:p.Leu381Trp
ENST00000637303.1:c.235-2332A>C (MYOCOS) ENSP00000490048.1:n.235-2332A>C
ENST00000638471.1:c.*480T>G (MYOC) ENSP00000491206.1:n.*480T>G
ENST00000037502.10:c.1142T>G (MYOC) ENSP00000037502.5:p.Leu381Trp
ENST00000614688.1:c.*106T>G (MYOC) ENSP00000478680.1:n.*106T>G
NM_000261.1:c.1142T>G (MYOC) NP_000252.1:p.Leu381Trp
NM_000261.2:c.1142T>G (MYOC) MANE Select NP_000252.1:p.Leu381Trp