Canonical Allele Identifier: CA343718000
Gene: MYOC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652073A>G , CM000663.2:g.171652073A>G GRCh38
NC_000001.10:g.171621213A>G , CM000663.1:g.171621213A>G GRCh37
NC_000001.9:g.169887836A>G NCBI36
NG_008859.1:g.5561T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.539T>C MANE Select ENSP00000037502.5:p.Leu180Pro
ENST00000638471.1:c.130+409T>C ENSP00000491206.1:n.130+409T>C
ENST00000037502.10:c.539T>C ENSP00000037502.5:p.Leu180Pro
ENST00000614688.1:c.539T>C ENSP00000478680.1:p.Leu180Pro
NM_000261.1:c.539T>C NP_000252.1:p.Leu180Pro
NM_000261.2:c.539T>C MANE Select NP_000252.1:p.Leu180Pro