Canonical Allele Identifier: CA343724414

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636263T>A , CM000663.2:g.171636263T>A GRCh38
NC_000001.10:g.171605403T>A , CM000663.1:g.171605403T>A GRCh37
NC_000001.9:g.169872026T>A NCBI36
NG_008859.1:g.21371A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1177A>T (MYOC) MANE Select ENSP00000037502.5:p.Ser393Cys
ENST00000637303.1:c.235-2367T>A (MYOCOS) ENSP00000490048.1:n.235-2367T>A
ENST00000638471.1:c.*515A>T (MYOC) ENSP00000491206.1:n.*515A>T
ENST00000037502.10:c.1177A>T (MYOC) ENSP00000037502.5:p.Ser393Cys
ENST00000614688.1:c.*141A>T (MYOC) ENSP00000478680.1:n.*141A>T
NM_000261.1:c.1177A>T (MYOC) NP_000252.1:p.Ser393Cys
NM_000261.2:c.1177A>T (MYOC) MANE Select NP_000252.1:p.Ser393Cys