Canonical Allele Identifier: CA343724410
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

ClinVar Variation Id: 2442277
ClinVar RCV Id: RCV003148606
MyVariant Identifiers: chr1:g.171605402C>T (hg19) chr1:g.171636262C>T (hg38)
ERepo: CA343724410/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636262C>T , CM000663.2:g.171636262C>T GRCh38
NC_000001.10:g.171605402C>T , CM000663.1:g.171605402C>T GRCh37
NC_000001.9:g.169872025C>T NCBI36
NG_008859.1:g.21372G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1178G>A (MYOC) MANE Select ENSP00000037502.5:p.Ser393Asn
ENST00000637303.1:c.235-2368C>T (MYOCOS) ENSP00000490048.1:n.235-2368C>T
ENST00000638471.1:c.*516G>A (MYOC) ENSP00000491206.1:n.*516G>A
ENST00000037502.10:c.1178G>A (MYOC) ENSP00000037502.5:p.Ser393Asn
ENST00000614688.1:c.*142G>A (MYOC) ENSP00000478680.1:n.*142G>A
NM_000261.1:c.1178G>A (MYOC) NP_000252.1:p.Ser393Asn
NM_000261.2:c.1178G>A (MYOC) MANE Select NP_000252.1:p.Ser393Asn
Search 100 bp 5'
Search 100 bp 3'