Canonical Allele Identifier: CA343724711
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1723163
ClinVar RCV Id: RCV002306263
MyVariant Identifiers: chr1:g.171605475A>G (hg19) chr1:g.171636335A>G (hg38)
ERepo: CA343724711/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636335A>G , CM000663.2:g.171636335A>G GRCh38
NC_000001.10:g.171605475A>G , CM000663.1:g.171605475A>G GRCh37
NC_000001.9:g.169872098A>G NCBI36
NG_008859.1:g.21299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1105T>C (MYOC) MANE Select ENSP00000037502.5:p.Phe369Leu
ENST00000637303.1:c.235-2295A>G (MYOCOS) ENSP00000490048.1:n.235-2295A>G
ENST00000638471.1:c.*443T>C (MYOC) ENSP00000491206.1:n.*443T>C
ENST00000037502.10:c.1105T>C (MYOC) ENSP00000037502.5:p.Phe369Leu
ENST00000614688.1:c.*69T>C (MYOC) ENSP00000478680.1:n.*69T>C
NM_000261.1:c.1105T>C (MYOC) NP_000252.1:p.Phe369Leu
NM_000261.2:c.1105T>C (MYOC) MANE Select NP_000252.1:p.Phe369Leu
Search 100 bp 5'
Search 100 bp 3'