Canonical Allele Identifier: CA119177

Linked Data

ClinVar Variation Id: 7953
dbSNP Id: rs74315335

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636430T>C , CM000663.2:g.171636430T>C GRCh38
NC_000001.10:g.171605570T>C , CM000663.1:g.171605570T>C GRCh37
NC_000001.9:g.169872193T>C NCBI36
NG_008859.1:g.21204A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1010A>G (MYOC) MANE Select ENSP00000037502.5:p.Gln337Arg
ENST00000637303.1:c.235-2200T>C (MYOCOS) ENSP00000490048.1:n.235-2200T>C
ENST00000638471.1:c.*348A>G (MYOC) ENSP00000491206.1:n.*348A>G
ENST00000037502.10:c.1010A>G (MYOC) ENSP00000037502.5:p.Gln337Arg
ENST00000614688.1:c.1009A>G (MYOC) ENSP00000478680.1:p.Arg337Gly
NM_000261.1:c.1010A>G (MYOC) NP_000252.1:p.Gln337Arg
NM_000261.2:c.1010A>G (MYOC) MANE Select NP_000252.1:p.Gln337Arg