Canonical Allele Identifier: CA343722726

Linked Data

ClinVar Variation Id: 2500833
ClinVar RCV Id: RCV003226018

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635925T>C , CM000663.2:g.171635925T>C GRCh38
NC_000001.10:g.171605065T>C , CM000663.1:g.171605065T>C GRCh37
NC_000001.9:g.169871688T>C NCBI36
NG_008859.1:g.21709A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1515A>G (MYOC) MANE Select ENSP00000037502.5:p.Ter505Trp
ENST00000637303.1:c.235-2705T>C (MYOCOS) ENSP00000490048.1:n.235-2705T>C
ENST00000638471.1:c.*853A>G (MYOC) ENSP00000491206.1:n.*853A>G
ENST00000037502.10:c.1515A>G (MYOC) ENSP00000037502.5:p.Ter505Trp
ENST00000614688.1:c.*479A>G (MYOC) ENSP00000478680.1:n.*479A>G
NM_000261.1:c.1515A>G (MYOC) NP_000252.1:p.Ter505Trp
NM_000261.2:c.1515A>G (MYOC) MANE Select NP_000252.1:p.Ter505Trp