Canonical Allele Identifier: CA343726285

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636698G>C , CM000663.2:g.171636698G>C GRCh38
NC_000001.10:g.171605838G>C , CM000663.1:g.171605838G>C GRCh37
NC_000001.9:g.169872461G>C NCBI36
NG_008859.1:g.20936C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.742C>G (MYOC) MANE Select ENSP00000037502.5:p.Leu248Val
ENST00000637303.1:c.235-1932G>C (MYOCOS) ENSP00000490048.1:n.235-1932G>C
ENST00000638471.1:c.*80C>G (MYOC) ENSP00000491206.1:n.*80C>G
ENST00000037502.10:c.742C>G (MYOC) ENSP00000037502.5:p.Leu248Val
ENST00000614688.1:c.742C>G (MYOC) ENSP00000478680.1:p.Leu248Val
NM_000261.1:c.742C>G (MYOC) NP_000252.1:p.Leu248Val
NM_000261.2:c.742C>G (MYOC) MANE Select NP_000252.1:p.Leu248Val