Canonical Allele Identifier: CA421938679
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605269G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636129G>A , CM000663.2:g.171636129G>A GRCh38
NC_000001.10:g.171605269G>A , CM000663.1:g.171605269G>A GRCh37
NC_000001.9:g.169871892G>A NCBI36
NG_008859.1:g.21505C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1311C>T (MYOC) MANE Select ENSP00000037502.5:p.Tyr437=
ENST00000637303.1:c.235-2501G>A (MYOCOS) ENSP00000490048.1:n.235-2501G>A
ENST00000638471.1:c.*649C>T (MYOC) ENSP00000491206.1:n.*649C>T
ENST00000037502.10:c.1311C>T (MYOC) ENSP00000037502.5:p.Tyr437=
ENST00000614688.1:c.*275C>T (MYOC) ENSP00000478680.1:n.*275C>T
NM_000261.1:c.1311C>T (MYOC) NP_000252.1:p.Tyr437=
NM_000261.2:c.1311C>T (MYOC) MANE Select NP_000252.1:p.Tyr437=
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