Canonical Allele Identifier: CA380318553
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47359130C>G (hg19) chr11:g.47337579C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337579C>G , CM000673.2:g.47337579C>G GRCh38
NC_000011.9:g.47359130C>G , CM000673.1:g.47359130C>G GRCh37
NC_000011.8:g.47315706C>G NCBI36
NG_007667.1:g.20124G>C , LRG_386:g.20124G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2414G>C MANE Select ENSP00000442795.1:p.Gly805Ala
ENST00000256993.8:c.2414G>C ENSP00000256993.5:p.Gly805Ala
ENST00000399249.6:c.2414G>C ENSP00000382193.2:p.Gly805Ala
ENST00000544791.1:c.2414-68G>C ENSP00000444259.1:n.2414-68G>C
ENST00000545968.5:c.2414G>C ENSP00000442795.1:p.Gly805Ala
NM_000256.3:c.2414G>C , LRG_386t1:c.2414G>C MANE Select NP_000247.2:p.Gly805Ala
XM_011520117.1:c.2396G>C XP_011518419.1:p.Gly799Ala
XM_011520118.1:c.2333G>C XP_011518420.1:p.Gly778Ala
Search 100 bp 5'
Search 100 bp 3'