Canonical Allele Identifier: CA421939316
Gene: MYOC HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171621704T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652564T>G , CM000663.2:g.171652564T>G GRCh38
NC_000001.10:g.171621704T>G , CM000663.1:g.171621704T>G GRCh37
NC_000001.9:g.169888327T>G NCBI36
NG_008859.1:g.5070A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.48A>C MANE Select ENSP00000037502.5:p.Pro16=
ENST00000638471.1:c.48A>C ENSP00000491206.1:p.Pro16=
ENST00000037502.10:c.48A>C ENSP00000037502.5:p.Pro16=
ENST00000614688.1:c.48A>C ENSP00000478680.1:p.Pro16=
NM_000261.1:c.48A>C NP_000252.1:p.Pro16=
NM_000261.2:c.48A>C MANE Select NP_000252.1:p.Pro16=