Canonical Allele Identifier: CA16616748
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1686787
ClinVar RCV Id: RCV002248292
dbSNP Id: rs763068244
MyVariant Identifiers: chr1:g.171605139G>T (hg19) chr1:g.171635999G>T (hg38)
ERepo: CA16616748/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635999G>T , CM000663.2:g.171635999G>T GRCh38
NC_000001.10:g.171605139G>T , CM000663.1:g.171605139G>T GRCh37
NC_000001.9:g.169871762G>T NCBI36
NG_008859.1:g.21635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1441C>A (MYOC) MANE Select ENSP00000037502.5:p.Pro481Thr
ENST00000637303.1:c.235-2631G>T (MYOCOS) ENSP00000490048.1:n.235-2631G>T
ENST00000638471.1:c.*779C>A (MYOC) ENSP00000491206.1:n.*779C>A
ENST00000037502.10:c.1441C>A (MYOC) ENSP00000037502.5:p.Pro481Thr
ENST00000614688.1:c.*405C>A (MYOC) ENSP00000478680.1:n.*405C>A
NM_000261.1:c.1441C>A (MYOC) NP_000252.1:p.Pro481Thr
NM_000261.2:c.1441C>A (MYOC) MANE Select NP_000252.1:p.Pro481Thr
Search 100 bp 5'
Search 100 bp 3'