Canonical Allele Identifier: CA119183
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 7958
ClinVar RCV Id: RCV000008421 RCV000008422 RCV000296614 RCV001520657 RCV001843352
dbSNP Id: rs74315339
ExAC: 1:171621608 C / A
gnomAD v2: 1-171621608-C-A
gnomAD v3: 1-171652468-C-A
gnomAD v4: 1-171652468-C-A
COSMIC: COSM4937987
MyVariant Identifiers: chr1:g.171621608C>A (hg19) chr1:g.171652468C>A (hg38)
ERepo: CA119183/MONDO:0020367/019
PubMed: PMID:12447164 PMID:15025728 PMID:15723004 PMID:15733270 PMID:16288197 PMID:17563717 PMID:22194650 PMID:22736945
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652468C>A , CM000663.2:g.171652468C>A GRCh38
NC_000001.10:g.171621608C>A , CM000663.1:g.171621608C>A GRCh37
NC_000001.9:g.169888231C>A NCBI36
NG_008859.1:g.5166G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000037502.11:c.144G>T MANE Select ENSP00000037502.5:p.Gln48His
ENST00000638471.1:c.130+14G>T ENSP00000491206.1:n.130+14G>T
ENST00000037502.10:c.144G>T ENSP00000037502.5:p.Gln48His
ENST00000614688.1:c.144G>T ENSP00000478680.1:p.Gln48His
NM_000261.1:c.144G>T NP_000252.1:p.Gln48His
NM_000261.2:c.144G>T MANE Select NP_000252.1:p.Gln48His
Search 100 bp 5'
Search 100 bp 3'