Canonical Allele Identifier: CA32685426

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs145447699
• gnomAD v3: 1-171636069-T-A
• gnomAD v4: 1-171636069-T-A
• MyVariant Identifiers: chr1:g.171605209T>A (hg19) ; chr1:g.171636069T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636069T>A , CM000663.2:g.171636069T>A	GRCh38
NC_000001.10:g.171605209T>A , CM000663.1:g.171605209T>A	GRCh37
NC_000001.9:g.169871832T>A	NCBI36
NG_008859.1:g.21565A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000037502.11:c.1371A>T (MYOC) MANE Select	ENSP00000037502.5:p.Thr457=
ENST00000637303.1:c.235-2561T>A (MYOCOS)	ENSP00000490048.1:n.235-2561T>A
ENST00000638471.1:c.*709A>T (MYOC)	ENSP00000491206.1:n.*709A>T
ENST00000037502.10:c.1371A>T (MYOC)	ENSP00000037502.5:p.Thr457=
ENST00000614688.1:c.*335A>T (MYOC)	ENSP00000478680.1:n.*335A>T
NM_000261.1:c.1371A>T (MYOC)	NP_000252.1:p.Thr457=
NM_000261.2:c.1371A>T (MYOC) MANE Select	NP_000252.1:p.Thr457=