Canonical Allele Identifier: CA474429337
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47359069C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337518C>G , CM000673.2:g.47337518C>G GRCh38
NC_000011.9:g.47359069C>G , CM000673.1:g.47359069C>G GRCh37
NC_000011.8:g.47315645C>G NCBI36
NG_007667.1:g.20185G>C , LRG_386:g.20185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2475G>C MANE Select ENSP00000442795.1:p.Leu825=
ENST00000256993.8:c.2475G>C ENSP00000256993.5:p.Leu825=
ENST00000399249.6:c.2475G>C ENSP00000382193.2:p.Leu825=
ENST00000544791.1:c.2414-7G>C ENSP00000444259.1:n.2414-7G>C
ENST00000545968.5:c.2475G>C ENSP00000442795.1:p.Leu825=
NM_000256.3:c.2475G>C , LRG_386t1:c.2475G>C MANE Select NP_000247.2:p.Leu825=
XM_011520117.1:c.2457G>C XP_011518419.1:p.Leu819=
XM_011520118.1:c.2394G>C XP_011518420.1:p.Leu798=
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