Canonical Allele Identifier: CA343719007
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621510T>A (hg19) chr1:g.171652370T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652370T>A , CM000663.2:g.171652370T>A GRCh38
NC_000001.10:g.171621510T>A , CM000663.1:g.171621510T>A GRCh37
NC_000001.9:g.169888133T>A NCBI36
NG_008859.1:g.5264A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.242A>T MANE Select ENSP00000037502.5:p.Gln81Leu
ENST00000638471.1:c.130+112A>T ENSP00000491206.1:n.130+112A>T
ENST00000037502.10:c.242A>T ENSP00000037502.5:p.Gln81Leu
ENST00000614688.1:c.242A>T ENSP00000478680.1:p.Gln81Leu
NM_000261.1:c.242A>T NP_000252.1:p.Gln81Leu
NM_000261.2:c.242A>T MANE Select NP_000252.1:p.Gln81Leu
Search 100 bp 5'
Search 100 bp 3'