Canonical Allele Identifier: CA380312937
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47354253C>A (hg19) chr11:g.47332702C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332702C>A , CM000673.2:g.47332702C>A GRCh38
NC_000011.9:g.47354253C>A , CM000673.1:g.47354253C>A GRCh37
NC_000011.8:g.47310829C>A NCBI36
NG_007667.1:g.25001G>T , LRG_386:g.25001G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3491G>T MANE Select ENSP00000442795.1:p.Gly1164Val
ENST00000256993.8:c.3491G>T ENSP00000256993.5:p.Gly1164Val
ENST00000399249.6:c.3491G>T ENSP00000382193.2:p.Gly1164Val
ENST00000545968.5:c.3491G>T ENSP00000442795.1:p.Gly1164Val
NM_000256.3:c.3491G>T , LRG_386t1:c.3491G>T MANE Select NP_000247.2:p.Gly1164Val
XM_011520117.1:c.3473G>T XP_011518419.1:p.Gly1158Val
XM_011520118.1:c.3410G>T XP_011518420.1:p.Gly1137Val
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