Canonical Allele Identifier: CA343725124

Linked Data

ClinVar Variation Id: 2442274
ClinVar RCV Id: RCV003148603

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636431G>C , CM000663.2:g.171636431G>C GRCh38
NC_000001.10:g.171605571G>C , CM000663.1:g.171605571G>C GRCh37
NC_000001.9:g.169872194G>C NCBI36
NG_008859.1:g.21203C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1009C>G (MYOC) MANE Select ENSP00000037502.5:p.Gln337Glu
ENST00000637303.1:c.235-2199G>C (MYOCOS) ENSP00000490048.1:n.235-2199G>C
ENST00000638471.1:c.*347C>G (MYOC) ENSP00000491206.1:n.*347C>G
ENST00000037502.10:c.1009C>G (MYOC) ENSP00000037502.5:p.Gln337Glu
ENST00000614688.1:c.1009-1C>G (MYOC) ENSP00000478680.1:n.1009-1C>G
NM_000261.1:c.1009C>G (MYOC) NP_000252.1:p.Gln337Glu
NM_000261.2:c.1009C>G (MYOC) MANE Select NP_000252.1:p.Gln337Glu