Canonical Allele Identifier: CA343726308
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2570627
ClinVar RCV Id: RCV003307387
MyVariant Identifiers: chr1:g.171605849C>G (hg19) chr1:g.171636709C>G (hg38)
ERepo: CA343726308/MONDO:0020367/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636709C>G , CM000663.2:g.171636709C>G GRCh38
NC_000001.10:g.171605849C>G , CM000663.1:g.171605849C>G GRCh37
NC_000001.9:g.169872472C>G NCBI36
NG_008859.1:g.20925G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.731G>C (MYOC) MANE Select ENSP00000037502.5:p.Gly244Ala
ENST00000637303.1:c.235-1921C>G (MYOCOS) ENSP00000490048.1:n.235-1921C>G
ENST00000638471.1:c.*69G>C (MYOC) ENSP00000491206.1:n.*69G>C
ENST00000037502.10:c.731G>C (MYOC) ENSP00000037502.5:p.Gly244Ala
ENST00000614688.1:c.731G>C (MYOC) ENSP00000478680.1:p.Gly244Ala
NM_000261.1:c.731G>C (MYOC) NP_000252.1:p.Gly244Ala
NM_000261.2:c.731G>C (MYOC) MANE Select NP_000252.1:p.Gly244Ala
Search 100 bp 5'
Search 100 bp 3'