Canonical Allele Identifier: CA380316350
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47356668C>A (hg19) chr11:g.47335117C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47335117C>A , CM000673.2:g.47335117C>A GRCh38
NC_000011.9:g.47356668C>A , CM000673.1:g.47356668C>A GRCh37
NC_000011.8:g.47313244C>A NCBI36
NG_007667.1:g.22586G>T , LRG_386:g.22586G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2830G>T MANE Select ENSP00000442795.1:p.Val944Leu
ENST00000256993.8:c.2830G>T ENSP00000256993.5:p.Val944Leu
ENST00000399249.6:c.2830G>T ENSP00000382193.2:p.Val944Leu
ENST00000545968.5:c.2830G>T ENSP00000442795.1:p.Val944Leu
NM_000256.3:c.2830G>T , LRG_386t1:c.2830G>T MANE Select NP_000247.2:p.Val944Leu
XM_011520117.1:c.2812G>T XP_011518419.1:p.Val938Leu
XM_011520118.1:c.2749G>T XP_011518420.1:p.Val917Leu
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