Canonical Allele Identifier: CA343723075
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605126T>G (hg19) chr1:g.171635986T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635986T>G , CM000663.2:g.171635986T>G GRCh38
NC_000001.10:g.171605126T>G , CM000663.1:g.171605126T>G GRCh37
NC_000001.9:g.169871749T>G NCBI36
NG_008859.1:g.21648A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1454A>C (MYOC) MANE Select ENSP00000037502.5:p.Lys485Thr
ENST00000637303.1:c.235-2644T>G (MYOCOS) ENSP00000490048.1:n.235-2644T>G
ENST00000638471.1:c.*792A>C (MYOC) ENSP00000491206.1:n.*792A>C
ENST00000037502.10:c.1454A>C (MYOC) ENSP00000037502.5:p.Lys485Thr
ENST00000614688.1:c.*418A>C (MYOC) ENSP00000478680.1:n.*418A>C
NM_000261.1:c.1454A>C (MYOC) NP_000252.1:p.Lys485Thr
NM_000261.2:c.1454A>C (MYOC) MANE Select NP_000252.1:p.Lys485Thr
Search 100 bp 5'
Search 100 bp 3'