Canonical Allele Identifier: CA343722897
Gene: MYOC HGNC NCBI
MYOCOS HGNC NCBI

Linked Data

dbSNP Id: rs1239668610
gnomAD v2: 1-171605094-T-A
gnomAD v4: 1-171635954-T-A
MyVariant Identifiers: chr1:g.171605094T>A (hg19) chr1:g.171635954T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171635954T>A , CM000663.2:g.171635954T>A GRCh38
NC_000001.10:g.171605094T>A , CM000663.1:g.171605094T>A GRCh37
NC_000001.9:g.169871717T>A NCBI36
NG_008859.1:g.21680A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.1486A>T (MYOC) MANE Select ENSP00000037502.5:p.Thr496Ser
ENST00000637303.1:c.235-2676T>A (MYOCOS) ENSP00000490048.1:n.235-2676T>A
ENST00000638471.1:c.*824A>T (MYOC) ENSP00000491206.1:n.*824A>T
ENST00000037502.10:c.1486A>T (MYOC) ENSP00000037502.5:p.Thr496Ser
ENST00000614688.1:c.*450A>T (MYOC) ENSP00000478680.1:n.*450A>T
NM_000261.1:c.1486A>T (MYOC) NP_000252.1:p.Thr496Ser
NM_000261.2:c.1486A>T (MYOC) MANE Select NP_000252.1:p.Thr496Ser
Search 100 bp 5'
Search 100 bp 3'