Canonical Allele Identifier: CA343723451
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

gnomAD v4: 1-171636052-A-G
MyVariant Identifiers: chr1:g.171605192A>G (hg19) chr1:g.171636052A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636052A>G , CM000663.2:g.171636052A>G GRCh38
NC_000001.10:g.171605192A>G , CM000663.1:g.171605192A>G GRCh37
NC_000001.9:g.169871815A>G NCBI36
NG_008859.1:g.21582T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1388T>C (MYOC) MANE Select ENSP00000037502.5:p.Leu463Pro
ENST00000637303.1:c.235-2578A>G (MYOCOS) ENSP00000490048.1:n.235-2578A>G
ENST00000638471.1:c.*726T>C (MYOC) ENSP00000491206.1:n.*726T>C
ENST00000037502.10:c.1388T>C (MYOC) ENSP00000037502.5:p.Leu463Pro
ENST00000614688.1:c.*352T>C (MYOC) ENSP00000478680.1:n.*352T>C
NM_000261.1:c.1388T>C (MYOC) NP_000252.1:p.Leu463Pro
NM_000261.2:c.1388T>C (MYOC) MANE Select NP_000252.1:p.Leu463Pro
Search 100 bp 5'
Search 100 bp 3'