Canonical Allele Identifier: CA380314455
Gene: MYBPC3 HGNC NCBI

Linked Data

COSMIC: COSM3979680 COSM3979681
MyVariant Identifiers: chr11:g.47354860A>G (hg19) chr11:g.47333309A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333309A>G , CM000673.2:g.47333309A>G GRCh38
NC_000011.9:g.47354860A>G , CM000673.1:g.47354860A>G GRCh37
NC_000011.8:g.47311436A>G NCBI36
NG_007667.1:g.24394T>C , LRG_386:g.24394T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3215T>C MANE Select ENSP00000442795.1:p.Leu1072Pro
ENST00000256993.8:c.3215T>C ENSP00000256993.5:p.Leu1072Pro
ENST00000399249.6:c.3215T>C ENSP00000382193.2:p.Leu1072Pro
ENST00000545968.5:c.3215T>C ENSP00000442795.1:p.Leu1072Pro
NM_000256.3:c.3215T>C , LRG_386t1:c.3215T>C MANE Select NP_000247.2:p.Leu1072Pro
XM_011520117.1:c.3197T>C XP_011518419.1:p.Leu1066Pro
XM_011520118.1:c.3134T>C XP_011518420.1:p.Leu1045Pro
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