Canonical Allele Identifier: CA343724521
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2570632
ClinVar RCV Id: RCV003307392
MyVariant Identifiers: chr1:g.171605429T>C (hg19) chr1:g.171636289T>C (hg38)
ERepo: CA343724521/MONDO:0020367/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636289T>C , CM000663.2:g.171636289T>C GRCh38
NC_000001.10:g.171605429T>C , CM000663.1:g.171605429T>C GRCh37
NC_000001.9:g.169872052T>C NCBI36
NG_008859.1:g.21345A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1151A>G (MYOC) MANE Select ENSP00000037502.5:p.Asp384Gly
ENST00000637303.1:c.235-2341T>C (MYOCOS) ENSP00000490048.1:n.235-2341T>C
ENST00000638471.1:c.*489A>G (MYOC) ENSP00000491206.1:n.*489A>G
ENST00000037502.10:c.1151A>G (MYOC) ENSP00000037502.5:p.Asp384Gly
ENST00000614688.1:c.*115A>G (MYOC) ENSP00000478680.1:n.*115A>G
NM_000261.1:c.1151A>G (MYOC) NP_000252.1:p.Asp384Gly
NM_000261.2:c.1151A>G (MYOC) MANE Select NP_000252.1:p.Asp384Gly
Search 100 bp 5'
Search 100 bp 3'