Canonical Allele Identifier: CA343723903

Gene: MYOC MYOCOS

Linked Data

• dbSNP Id: rs1572210549
• gnomAD v4: 1-171636137-T-G
• MyVariant Identifiers: chr1:g.171605277T>G (hg19) ; chr1:g.171636137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.171636137T>G , CM000663.2:g.171636137T>G	GRCh38
NC_000001.10:g.171605277T>G , CM000663.1:g.171605277T>G	GRCh37
NC_000001.9:g.169871900T>G	NCBI36
NG_008859.1:g.21497A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000037502.11:c.1303A>C (MYOC) MANE Select	ENSP00000037502.5:p.Thr435Pro
ENST00000637303.1:c.235-2493T>G (MYOCOS)	ENSP00000490048.1:n.235-2493T>G
ENST00000638471.1:c.*641A>C (MYOC)	ENSP00000491206.1:n.*641A>C
ENST00000037502.10:c.1303A>C (MYOC)	ENSP00000037502.5:p.Thr435Pro
ENST00000614688.1:c.*267A>C (MYOC)	ENSP00000478680.1:n.*267A>C
NM_000261.1:c.1303A>C (MYOC)	NP_000252.1:p.Thr435Pro
NM_000261.2:c.1303A>C (MYOC) MANE Select	NP_000252.1:p.Thr435Pro