Canonical Allele Identifier: CA1207016848

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636440G= , CM000663.2:g.171636440G= GRCh38
NC_000001.10:g.171605580G= , CM000663.1:g.171605580G= GRCh37
NC_000001.9:g.169872203G= NCBI36
NG_008859.1:g.21194C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1000C= (MYOC) MANE Select ENSP00000037502.5:p.Leu334=
ENST00000637303.1:c.235-2190G= (MYOCOS) ENSP00000490048.1:n.235-2190G=
ENST00000638471.1:c.*338C= (MYOC) ENSP00000491206.1:n.*338C=
ENST00000037502.10:c.1000C= (MYOC) ENSP00000037502.5:p.Leu334=
ENST00000614688.1:c.1000C= (MYOC) ENSP00000478680.1:p.Leu334=
NM_000261.1:c.1000C= (MYOC) NP_000252.1:p.Leu334=
NM_000261.2:c.1000C= (MYOC) MANE Select NP_000252.1:p.Leu334=