Canonical Allele Identifier: CA1140886913

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636430T= , CM000663.2:g.171636430T= GRCh38
NC_000001.10:g.171605570T= , CM000663.1:g.171605570T= GRCh37
NC_000001.9:g.169872193T= NCBI36
NG_008859.1:g.21204A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1010A= (MYOC) MANE Select ENSP00000037502.5:p.Gln337=
ENST00000637303.1:c.235-2200T= (MYOCOS) ENSP00000490048.1:n.235-2200T=
ENST00000638471.1:c.*348A= (MYOC) ENSP00000491206.1:n.*348A=
ENST00000037502.10:c.1010A= (MYOC) ENSP00000037502.5:p.Gln337=
ENST00000614688.1:c.1009A= (MYOC) ENSP00000478680.1:p.Arg337=
NM_000261.1:c.1010A= (MYOC) NP_000252.1:p.Gln337=
NM_000261.2:c.1010A= (MYOC) MANE Select NP_000252.1:p.Gln337=