Canonical Allele Identifier: CA2649105824

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635596T>G , CM000663.2:g.171635596T>G GRCh38
NC_000001.10:g.171604736T>G , CM000663.1:g.171604736T>G GRCh37
NC_000001.9:g.169871359T>G NCBI36
NG_008859.1:g.22038A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*329A>C (MYOC) MANE Select ENSP00000037502.5:n.*329A>C
ENST00000637303.1:c.235-3034T>G (MYOCOS) ENSP00000490048.1:n.235-3034T>G
ENST00000638471.1:c.*1182A>C (MYOC) ENSP00000491206.1:n.*1182A>C
ENST00000037502.10:c.*329A>C (MYOC) ENSP00000037502.5:n.*329A>C
ENST00000614688.1:c.*808A>C (MYOC) ENSP00000478680.1:n.*808A>C
NM_000261.1:c.*329A>C (MYOC) NP_000252.1:n.*329A>C
NM_000261.2:c.*329A>C (MYOC) MANE Select NP_000252.1:n.*329A>C