Canonical Allele Identifier: CA343725028

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636413T>C , CM000663.2:g.171636413T>C GRCh38
NC_000001.10:g.171605553T>C , CM000663.1:g.171605553T>C GRCh37
NC_000001.9:g.169872176T>C NCBI36
NG_008859.1:g.21221A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1027A>G (MYOC) MANE Select ENSP00000037502.5:p.Thr343Ala
ENST00000637303.1:c.235-2217T>C (MYOCOS) ENSP00000490048.1:n.235-2217T>C
ENST00000638471.1:c.*365A>G (MYOC) ENSP00000491206.1:n.*365A>G
ENST00000037502.10:c.1027A>G (MYOC) ENSP00000037502.5:p.Thr343Ala
ENST00000614688.1:c.1026A>G (MYOC) ENSP00000478680.1:p.Glu342=
NM_000261.1:c.1027A>G (MYOC) NP_000252.1:p.Thr343Ala
NM_000261.2:c.1027A>G (MYOC) MANE Select NP_000252.1:p.Thr343Ala