Canonical Allele Identifier: CA343723184

Linked Data

ClinVar Variation Id: 1173106
dbSNP Id: rs2102944475

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636005A>G , CM000663.2:g.171636005A>G GRCh38
NC_000001.10:g.171605145A>G , CM000663.1:g.171605145A>G GRCh37
NC_000001.9:g.169871768A>G NCBI36
NG_008859.1:g.21629T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1435T>C (MYOC) MANE Select ENSP00000037502.5:p.Tyr479His
ENST00000637303.1:c.235-2625A>G (MYOCOS) ENSP00000490048.1:n.235-2625A>G
ENST00000638471.1:c.*773T>C (MYOC) ENSP00000491206.1:n.*773T>C
ENST00000037502.10:c.1435T>C (MYOC) ENSP00000037502.5:p.Tyr479His
ENST00000614688.1:c.*399T>C (MYOC) ENSP00000478680.1:n.*399T>C
NM_000261.1:c.1435T>C (MYOC) NP_000252.1:p.Tyr479His
NM_000261.2:c.1435T>C (MYOC) MANE Select NP_000252.1:p.Tyr479His