Canonical Allele Identifier: CA1244043

Linked Data

dbSNP Id: rs371891266

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636125C>T , CM000663.2:g.171636125C>T GRCh38
NC_000001.10:g.171605265C>T , CM000663.1:g.171605265C>T GRCh37
NC_000001.9:g.169871888C>T NCBI36
NG_008859.1:g.21509G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1315G>A (MYOC) MANE Select ENSP00000037502.5:p.Val439Ile
ENST00000637303.1:c.235-2505C>T (MYOCOS) ENSP00000490048.1:n.235-2505C>T
ENST00000638471.1:c.*653G>A (MYOC) ENSP00000491206.1:n.*653G>A
ENST00000037502.10:c.1315G>A (MYOC) ENSP00000037502.5:p.Val439Ile
ENST00000614688.1:c.*279G>A (MYOC) ENSP00000478680.1:n.*279G>A
NM_000261.1:c.1315G>A (MYOC) NP_000252.1:p.Val439Ile
NM_000261.2:c.1315G>A (MYOC) MANE Select NP_000252.1:p.Val439Ile