Canonical Allele Identifier: CA891106045
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1339310369
gnomAD v4: 1-171635710-G-T
MyVariant Identifiers: chr1:g.171604850G>T (hg19) chr1:g.171635710G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635710G>T , CM000663.2:g.171635710G>T GRCh38
NC_000001.10:g.171604850G>T , CM000663.1:g.171604850G>T GRCh37
NC_000001.9:g.169871473G>T NCBI36
NG_008859.1:g.21924C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*215C>A (MYOC) MANE Select ENSP00000037502.5:n.*215C>A
ENST00000637303.1:c.235-2920G>T (MYOCOS) ENSP00000490048.1:n.235-2920G>T
ENST00000638471.1:c.*1068C>A (MYOC) ENSP00000491206.1:n.*1068C>A
ENST00000037502.10:c.*215C>A (MYOC) ENSP00000037502.5:n.*215C>A
ENST00000614688.1:c.*694C>A (MYOC) ENSP00000478680.1:n.*694C>A
NM_000261.1:c.*215C>A (MYOC) NP_000252.1:n.*215C>A
NM_000261.2:c.*215C>A (MYOC) MANE Select NP_000252.1:n.*215C>A
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