Canonical Allele Identifier: CA343724596
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2442284
ClinVar RCV Id: RCV003148613
MyVariant Identifiers: chr1:g.171605447T>C (hg19) chr1:g.171636307T>C (hg38)
ERepo: CA343724596/MONDO:0007665/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636307T>C , CM000663.2:g.171636307T>C GRCh38
NC_000001.10:g.171605447T>C , CM000663.1:g.171605447T>C GRCh37
NC_000001.9:g.169872070T>C NCBI36
NG_008859.1:g.21327A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1133A>G (MYOC) MANE Select ENSP00000037502.5:p.Asp378Gly
ENST00000637303.1:c.235-2323T>C (MYOCOS) ENSP00000490048.1:n.235-2323T>C
ENST00000638471.1:c.*471A>G (MYOC) ENSP00000491206.1:n.*471A>G
ENST00000037502.10:c.1133A>G (MYOC) ENSP00000037502.5:p.Asp378Gly
ENST00000614688.1:c.*97A>G (MYOC) ENSP00000478680.1:n.*97A>G
NM_000261.1:c.1133A>G (MYOC) NP_000252.1:p.Asp378Gly
NM_000261.2:c.1133A>G (MYOC) MANE Select NP_000252.1:p.Asp378Gly
Search 100 bp 5'
Search 100 bp 3'