Canonical Allele Identifier: CA343723300

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636025T>G , CM000663.2:g.171636025T>G GRCh38
NC_000001.10:g.171605165T>G , CM000663.1:g.171605165T>G GRCh37
NC_000001.9:g.169871788T>G NCBI36
NG_008859.1:g.21609A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1415A>C (MYOC) MANE Select ENSP00000037502.5:p.Lys472Thr
ENST00000637303.1:c.235-2605T>G (MYOCOS) ENSP00000490048.1:n.235-2605T>G
ENST00000638471.1:c.*753A>C (MYOC) ENSP00000491206.1:n.*753A>C
ENST00000037502.10:c.1415A>C (MYOC) ENSP00000037502.5:p.Lys472Thr
ENST00000614688.1:c.*379A>C (MYOC) ENSP00000478680.1:n.*379A>C
NM_000261.1:c.1415A>C (MYOC) NP_000252.1:p.Lys472Thr
NM_000261.2:c.1415A>C (MYOC) MANE Select NP_000252.1:p.Lys472Thr