Canonical Allele Identifier: CA343724686

Linked Data

ClinVar Variation Id: 2500835
ClinVar RCV Id: RCV003226020

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636329A>C , CM000663.2:g.171636329A>C GRCh38
NC_000001.10:g.171605469A>C , CM000663.1:g.171605469A>C GRCh37
NC_000001.9:g.169872092A>C NCBI36
NG_008859.1:g.21305T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1111T>G (MYOC) MANE Select ENSP00000037502.5:p.Tyr371Asp
ENST00000637303.1:c.235-2301A>C (MYOCOS) ENSP00000490048.1:n.235-2301A>C
ENST00000638471.1:c.*449T>G (MYOC) ENSP00000491206.1:n.*449T>G
ENST00000037502.10:c.1111T>G (MYOC) ENSP00000037502.5:p.Tyr371Asp
ENST00000614688.1:c.*75T>G (MYOC) ENSP00000478680.1:n.*75T>G
NM_000261.1:c.1111T>G (MYOC) NP_000252.1:p.Tyr371Asp
NM_000261.2:c.1111T>G (MYOC) MANE Select NP_000252.1:p.Tyr371Asp