Canonical Allele Identifier: CA380312189
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1926001
ClinVar RCV Id: RCV002604986
MyVariant Identifiers: chr11:g.47354122G>C (hg19) chr11:g.47332571G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332571G>C , CM000673.2:g.47332571G>C GRCh38
NC_000011.9:g.47354122G>C , CM000673.1:g.47354122G>C GRCh37
NC_000011.8:g.47310698G>C NCBI36
NG_007667.1:g.25132C>G , LRG_386:g.25132C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3622C>G MANE Select ENSP00000442795.1:p.Pro1208Ala
ENST00000256993.8:c.3622C>G ENSP00000256993.5:p.Pro1208Ala
ENST00000399249.6:c.3622C>G ENSP00000382193.2:p.Pro1208Ala
ENST00000545968.5:c.3622C>G ENSP00000442795.1:p.Pro1208Ala
NM_000256.3:c.3622C>G , LRG_386t1:c.3622C>G MANE Select NP_000247.2:p.Pro1208Ala
XM_011520117.1:c.3604C>G XP_011518419.1:p.Pro1202Ala
XM_011520118.1:c.3541C>G XP_011518420.1:p.Pro1181Ala
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