Canonical Allele Identifier: CA2649105952
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171635834-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635834G>T , CM000663.2:g.171635834G>T GRCh38
NC_000001.10:g.171604974G>T , CM000663.1:g.171604974G>T GRCh37
NC_000001.9:g.169871597G>T NCBI36
NG_008859.1:g.21800C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.*91C>A (MYOC) MANE Select ENSP00000037502.5:n.*91C>A
ENST00000637303.1:c.235-2796G>T (MYOCOS) ENSP00000490048.1:n.235-2796G>T
ENST00000638471.1:c.*944C>A (MYOC) ENSP00000491206.1:n.*944C>A
ENST00000037502.10:c.*91C>A (MYOC) ENSP00000037502.5:n.*91C>A
ENST00000614688.1:c.*570C>A (MYOC) ENSP00000478680.1:n.*570C>A
NM_000261.1:c.*91C>A (MYOC) NP_000252.1:n.*91C>A
NM_000261.2:c.*91C>A (MYOC) MANE Select NP_000252.1:n.*91C>A
Search 100 bp 5'
Search 100 bp 3'