Canonical Allele Identifier: CA343722760

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635930T>G , CM000663.2:g.171635930T>G GRCh38
NC_000001.10:g.171605070T>G , CM000663.1:g.171605070T>G GRCh37
NC_000001.9:g.169871693T>G NCBI36
NG_008859.1:g.21704A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1510A>C (MYOC) MANE Select ENSP00000037502.5:p.Met504Leu
ENST00000637303.1:c.235-2700T>G (MYOCOS) ENSP00000490048.1:n.235-2700T>G
ENST00000638471.1:c.*848A>C (MYOC) ENSP00000491206.1:n.*848A>C
ENST00000037502.10:c.1510A>C (MYOC) ENSP00000037502.5:p.Met504Leu
ENST00000614688.1:c.*474A>C (MYOC) ENSP00000478680.1:n.*474A>C
NM_000261.1:c.1510A>C (MYOC) NP_000252.1:p.Met504Leu
NM_000261.2:c.1510A>C (MYOC) MANE Select NP_000252.1:p.Met504Leu