Canonical Allele Identifier: CA014684
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 181136
ClinVar RCV Id: RCV000158461 RCV000459464 RCV001808429 RCV003372628
dbSNP Id: rs730880702
MyVariant Identifiers: chr11:g.47353724A>G (hg19) chr11:g.47332173A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332173A>G , CM000673.2:g.47332173A>G GRCh38
NC_000011.9:g.47353724A>G , CM000673.1:g.47353724A>G GRCh37
NC_000011.8:g.47310300A>G NCBI36
NG_007667.1:g.25530T>C , LRG_386:g.25530T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3713T>C MANE Select ENSP00000442795.1:p.Leu1238Pro
ENST00000256993.8:c.3713T>C ENSP00000256993.5:p.Leu1238Pro
ENST00000399249.6:c.3713T>C ENSP00000382193.2:p.Leu1238Pro
ENST00000545968.5:c.3713T>C ENSP00000442795.1:p.Leu1238Pro
NM_000256.3:c.3713T>C , LRG_386t1:c.3713T>C MANE Select NP_000247.2:p.Leu1238Pro
XM_011520117.1:c.3695T>C XP_011518419.1:p.Leu1232Pro
XM_011520118.1:c.3632T>C XP_011518420.1:p.Leu1211Pro
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