Canonical Allele Identifier: CA343723135
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1686789
ClinVar RCV Id: RCV002248294
dbSNP Id: rs2102944466
MyVariant Identifiers: chr1:g.171605138G>A (hg19) chr1:g.171635998G>A (hg38)
ERepo: CA343723135/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635998G>A , CM000663.2:g.171635998G>A GRCh38
NC_000001.10:g.171605138G>A , CM000663.1:g.171605138G>A GRCh37
NC_000001.9:g.169871761G>A NCBI36
NG_008859.1:g.21636C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1442C>T (MYOC) MANE Select ENSP00000037502.5:p.Pro481Leu
ENST00000637303.1:c.235-2632G>A (MYOCOS) ENSP00000490048.1:n.235-2632G>A
ENST00000638471.1:c.*780C>T (MYOC) ENSP00000491206.1:n.*780C>T
ENST00000037502.10:c.1442C>T (MYOC) ENSP00000037502.5:p.Pro481Leu
ENST00000614688.1:c.*406C>T (MYOC) ENSP00000478680.1:n.*406C>T
NM_000261.1:c.1442C>T (MYOC) NP_000252.1:p.Pro481Leu
NM_000261.2:c.1442C>T (MYOC) MANE Select NP_000252.1:p.Pro481Leu
Search 100 bp 5'
Search 100 bp 3'