Canonical Allele Identifier: CA343720047

Gene: MYOC

Linked Data

• MyVariant Identifiers: chr1:g.171621709T>G (hg19) ; chr1:g.171652569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171652569T>G , CM000663.2:g.171652569T>G	GRCh38
NC_000001.10:g.171621709T>G , CM000663.1:g.171621709T>G	GRCh37
NC_000001.9:g.169888332T>G	NCBI36
NG_008859.1:g.5065A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.43A>C MANE Select	ENSP00000037502.5:p.Met15Leu
ENST00000638471.1:c.43A>C	ENSP00000491206.1:p.Met15Leu
ENST00000037502.10:c.43A>C	ENSP00000037502.5:p.Met15Leu
ENST00000614688.1:c.43A>C	ENSP00000478680.1:p.Met15Leu
NM_000261.1:c.43A>C	NP_000252.1:p.Met15Leu
NM_000261.2:c.43A>C MANE Select	NP_000252.1:p.Met15Leu