Canonical Allele Identifier: CA1244011
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1168919
ClinVar RCV Id: RCV001519562 RCV003298916 RCV004541969
dbSNP Id: rs145977437
ExAC: 1:171605081 T / C
gnomAD v2: 1-171605081-T-C
gnomAD v3: 1-171635941-T-C
gnomAD v4: 1-171635941-T-C
MyVariant Identifiers: chr1:g.171605081T>C (hg19) chr1:g.171635941T>C (hg38)
ERepo: CA1244011/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635941T>C , CM000663.2:g.171635941T>C GRCh38
NC_000001.10:g.171605081T>C , CM000663.1:g.171605081T>C GRCh37
NC_000001.9:g.169871704T>C NCBI36
NG_008859.1:g.21693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1499A>G (MYOC) MANE Select ENSP00000037502.5:p.Lys500Arg
ENST00000637303.1:c.235-2689T>C (MYOCOS) ENSP00000490048.1:n.235-2689T>C
ENST00000638471.1:c.*837A>G (MYOC) ENSP00000491206.1:n.*837A>G
ENST00000037502.10:c.1499A>G (MYOC) ENSP00000037502.5:p.Lys500Arg
ENST00000614688.1:c.*463A>G (MYOC) ENSP00000478680.1:n.*463A>G
NM_000261.1:c.1499A>G (MYOC) NP_000252.1:p.Lys500Arg
NM_000261.2:c.1499A>G (MYOC) MANE Select NP_000252.1:p.Lys500Arg
Search 100 bp 5'
Search 100 bp 3'