Canonical Allele Identifier: CA343718548
Gene: MYOC HGNC NCBI

Linked Data

dbSNP Id: rs1653372785
gnomAD v3: 1-171652245-T-C
gnomAD v4: 1-171652245-T-C
MyVariant Identifiers: chr1:g.171621385T>C (hg19) chr1:g.171652245T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652245T>C , CM000663.2:g.171652245T>C GRCh38
NC_000001.10:g.171621385T>C , CM000663.1:g.171621385T>C GRCh37
NC_000001.9:g.169888008T>C NCBI36
NG_008859.1:g.5389A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.367A>G MANE Select ENSP00000037502.5:p.Thr123Ala
ENST00000638471.1:c.130+237A>G ENSP00000491206.1:n.130+237A>G
ENST00000037502.10:c.367A>G ENSP00000037502.5:p.Thr123Ala
ENST00000614688.1:c.367A>G ENSP00000478680.1:p.Thr123Ala
NM_000261.1:c.367A>G NP_000252.1:p.Thr123Ala
NM_000261.2:c.367A>G MANE Select NP_000252.1:p.Thr123Ala
Search 100 bp 5'
Search 100 bp 3'