Canonical Allele Identifier: CA380314034
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs2095878948
MyVariant Identifiers: chr11:g.47354756T>C (hg19) chr11:g.47333205T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333205T>C , CM000673.2:g.47333205T>C GRCh38
NC_000011.9:g.47354756T>C , CM000673.1:g.47354756T>C GRCh37
NC_000011.8:g.47311332T>C NCBI36
NG_007667.1:g.24498A>G , LRG_386:g.24498A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3319A>G MANE Select ENSP00000442795.1:p.Lys1107Glu
ENST00000256993.8:c.3319A>G ENSP00000256993.5:p.Lys1107Glu
ENST00000399249.6:c.3319A>G ENSP00000382193.2:p.Lys1107Glu
ENST00000545968.5:c.3319A>G ENSP00000442795.1:p.Lys1107Glu
NM_000256.3:c.3319A>G , LRG_386t1:c.3319A>G MANE Select NP_000247.2:p.Lys1107Glu
XM_011520117.1:c.3301A>G XP_011518419.1:p.Lys1101Glu
XM_011520118.1:c.3238A>G XP_011518420.1:p.Lys1080Glu
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