Canonical Allele Identifier: CA1244052

Linked Data

ClinVar Variation Id: 1686797
ClinVar RCV Id: RCV002248302
dbSNP Id: rs201573718

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636175C>T , CM000663.2:g.171636175C>T GRCh38
NC_000001.10:g.171605315C>T , CM000663.1:g.171605315C>T GRCh37
NC_000001.9:g.169871938C>T NCBI36
NG_008859.1:g.21459G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1265G>A (MYOC) MANE Select ENSP00000037502.5:p.Arg422His
ENST00000637303.1:c.235-2455C>T (MYOCOS) ENSP00000490048.1:n.235-2455C>T
ENST00000638471.1:c.*603G>A (MYOC) ENSP00000491206.1:n.*603G>A
ENST00000037502.10:c.1265G>A (MYOC) ENSP00000037502.5:p.Arg422His
ENST00000614688.1:c.*229G>A (MYOC) ENSP00000478680.1:n.*229G>A
NM_000261.1:c.1265G>A (MYOC) NP_000252.1:p.Arg422His
NM_000261.2:c.1265G>A (MYOC) MANE Select NP_000252.1:p.Arg422His