Canonical Allele Identifier: CA343722923
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1468931184
gnomAD v2: 1-171605099-A-T
gnomAD v4: 1-171635959-A-T
MyVariant Identifiers: chr1:g.171605099A>T (hg19) chr1:g.171635959A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635959A>T , CM000663.2:g.171635959A>T GRCh38
NC_000001.10:g.171605099A>T , CM000663.1:g.171605099A>T GRCh37
NC_000001.9:g.169871722A>T NCBI36
NG_008859.1:g.21675T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1481T>A (MYOC) MANE Select ENSP00000037502.5:p.Met494Lys
ENST00000637303.1:c.235-2671A>T (MYOCOS) ENSP00000490048.1:n.235-2671A>T
ENST00000638471.1:c.*819T>A (MYOC) ENSP00000491206.1:n.*819T>A
ENST00000037502.10:c.1481T>A (MYOC) ENSP00000037502.5:p.Met494Lys
ENST00000614688.1:c.*445T>A (MYOC) ENSP00000478680.1:n.*445T>A
NM_000261.1:c.1481T>A (MYOC) NP_000252.1:p.Met494Lys
NM_000261.2:c.1481T>A (MYOC) MANE Select NP_000252.1:p.Met494Lys
Search 100 bp 5'
Search 100 bp 3'