Canonical Allele Identifier: CA1139532728
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 1686795
ClinVar RCV Id: RCV002248300
dbSNP Id: rs2102944606
ERepo: CA1139532728/MONDO:0020367/019
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636252_171636254dup , CM000663.2:g.171636252_171636254dup GRCh38
NC_000001.10:g.171605392_171605394dup , CM000663.1:g.171605392_171605394dup GRCh37
NC_000001.9:g.169872015_169872017dup NCBI36
NG_008859.1:g.21381_21383dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1187_1189dup (MYOC) MANE Select ENSP00000037502.5:p.Glu396_Ala397insGlu
ENST00000637303.1:c.235-2378_235-2376dup (MYOCOS) ENSP00000490048.1:n.235-2378_235-2376dup
ENST00000638471.1:c.*525_*527dup (MYOC) ENSP00000491206.1:n.*525_*527dup
ENST00000037502.10:c.1187_1189dup (MYOC) ENSP00000037502.5:p.Glu396_Ala397insGlu
ENST00000614688.1:c.*151_*153dup (MYOC) ENSP00000478680.1:n.*151_*153dup
NM_000261.1:c.1187_1189dup (MYOC) NP_000252.1:p.Glu396_Ala397insGlu
NM_000261.2:c.1187_1189dup (MYOC) MANE Select NP_000252.1:p.Glu396_Ala397insGlu
Search 100 bp 5'
Search 100 bp 3'