Canonical Allele Identifier: CA343725319

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636478G>A , CM000663.2:g.171636478G>A GRCh38
NC_000001.10:g.171605618G>A , CM000663.1:g.171605618G>A GRCh37
NC_000001.9:g.169872241G>A NCBI36
NG_008859.1:g.21156C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.962C>T (MYOC) MANE Select ENSP00000037502.5:p.Pro321Leu
ENST00000637303.1:c.235-2152G>A (MYOCOS) ENSP00000490048.1:n.235-2152G>A
ENST00000638471.1:c.*300C>T (MYOC) ENSP00000491206.1:n.*300C>T
ENST00000037502.10:c.962C>T (MYOC) ENSP00000037502.5:p.Pro321Leu
ENST00000614688.1:c.962C>T (MYOC) ENSP00000478680.1:p.Pro321Leu
NM_000261.1:c.962C>T (MYOC) NP_000252.1:p.Pro321Leu
NM_000261.2:c.962C>T (MYOC) MANE Select NP_000252.1:p.Pro321Leu