Canonical Allele Identifier: CA1244013
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs757893552
ExAC: 1:171605086 G / A
gnomAD v2: 1-171605086-G-A
gnomAD v3: 1-171635946-G-A
gnomAD v4: 1-171635946-G-A
MyVariant Identifiers: chr1:g.171605086G>A (hg19) chr1:g.171635946G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635946G>A , CM000663.2:g.171635946G>A GRCh38
NC_000001.10:g.171605086G>A , CM000663.1:g.171605086G>A GRCh37
NC_000001.9:g.169871709G>A NCBI36
NG_008859.1:g.21688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1494C>T (MYOC) MANE Select ENSP00000037502.5:p.Asp498=
ENST00000637303.1:c.235-2684G>A (MYOCOS) ENSP00000490048.1:n.235-2684G>A
ENST00000638471.1:c.*832C>T (MYOC) ENSP00000491206.1:n.*832C>T
ENST00000037502.10:c.1494C>T (MYOC) ENSP00000037502.5:p.Asp498=
ENST00000614688.1:c.*458C>T (MYOC) ENSP00000478680.1:n.*458C>T
NM_000261.1:c.1494C>T (MYOC) NP_000252.1:p.Asp498=
NM_000261.2:c.1494C>T (MYOC) MANE Select NP_000252.1:p.Asp498=
Search 100 bp 5'
Search 100 bp 3'