Canonical Allele Identifier: CA343724537
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.171605433C>A (hg19) chr1:g.171636293C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171636293C>A , CM000663.2:g.171636293C>A GRCh38
NC_000001.10:g.171605433C>A , CM000663.1:g.171605433C>A GRCh37
NC_000001.9:g.169872056C>A NCBI36
NG_008859.1:g.21341G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.1147G>T (MYOC) MANE Select ENSP00000037502.5:p.Val383Leu
ENST00000637303.1:c.235-2337C>A (MYOCOS) ENSP00000490048.1:n.235-2337C>A
ENST00000638471.1:c.*485G>T (MYOC) ENSP00000491206.1:n.*485G>T
ENST00000037502.10:c.1147G>T (MYOC) ENSP00000037502.5:p.Val383Leu
ENST00000614688.1:c.*111G>T (MYOC) ENSP00000478680.1:n.*111G>T
NM_000261.1:c.1147G>T (MYOC) NP_000252.1:p.Val383Leu
NM_000261.2:c.1147G>T (MYOC) MANE Select NP_000252.1:p.Val383Leu
Search 100 bp 5'
Search 100 bp 3'