Canonical Allele Identifier: CA343726284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636697A>T , CM000663.2:g.171636697A>T GRCh38
NC_000001.10:g.171605837A>T , CM000663.1:g.171605837A>T GRCh37
NC_000001.9:g.169872460A>T NCBI36
NG_008859.1:g.20937T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.743T>A (MYOC) MANE Select ENSP00000037502.5:p.Leu248Gln
ENST00000637303.1:c.235-1933A>T (MYOCOS) ENSP00000490048.1:n.235-1933A>T
ENST00000638471.1:c.*81T>A (MYOC) ENSP00000491206.1:n.*81T>A
ENST00000037502.10:c.743T>A (MYOC) ENSP00000037502.5:p.Leu248Gln
ENST00000614688.1:c.743T>A (MYOC) ENSP00000478680.1:p.Leu248Gln
NM_000261.1:c.743T>A (MYOC) NP_000252.1:p.Leu248Gln
NM_000261.2:c.743T>A (MYOC) MANE Select NP_000252.1:p.Leu248Gln