Canonical Allele Identifier: CA343724571
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1342203
ClinVar RCV Id: RCV001838870
dbSNP Id: rs2102944632
gnomAD v4: 1-171636301-T-G
MyVariant Identifiers: chr1:g.171605441T>G (hg19) chr1:g.171636301T>G (hg38)
ERepo: CA343724571/MONDO:0020367/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636301T>G , CM000663.2:g.171636301T>G GRCh38
NC_000001.10:g.171605441T>G , CM000663.1:g.171605441T>G GRCh37
NC_000001.9:g.169872064T>G NCBI36
NG_008859.1:g.21333A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1139A>C (MYOC) MANE Select ENSP00000037502.5:p.Asp380Ala
ENST00000637303.1:c.235-2329T>G (MYOCOS) ENSP00000490048.1:n.235-2329T>G
ENST00000638471.1:c.*477A>C (MYOC) ENSP00000491206.1:n.*477A>C
ENST00000037502.10:c.1139A>C (MYOC) ENSP00000037502.5:p.Asp380Ala
ENST00000614688.1:c.*103A>C (MYOC) ENSP00000478680.1:n.*103A>C
NM_000261.1:c.1139A>C (MYOC) NP_000252.1:p.Asp380Ala
NM_000261.2:c.1139A>C (MYOC) MANE Select NP_000252.1:p.Asp380Ala
Search 100 bp 5'
Search 100 bp 3'