Canonical Allele Identifier: CA380314433
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333303A>C , CM000673.2:g.47333303A>C GRCh38
NC_000011.9:g.47354854A>C , CM000673.1:g.47354854A>C GRCh37
NC_000011.8:g.47311430A>C NCBI36
NG_007667.1:g.24400T>G , LRG_386:g.24400T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3221T>G MANE Select ENSP00000442795.1:p.Val1074Gly
ENST00000256993.8:c.3221T>G ENSP00000256993.5:p.Val1074Gly
ENST00000399249.6:c.3221T>G ENSP00000382193.2:p.Val1074Gly
ENST00000545968.5:c.3221T>G ENSP00000442795.1:p.Val1074Gly
NM_000256.3:c.3221T>G , LRG_386t1:c.3221T>G MANE Select NP_000247.2:p.Val1074Gly
XM_011520117.1:c.3203T>G XP_011518419.1:p.Val1068Gly
XM_011520118.1:c.3140T>G XP_011518420.1:p.Val1047Gly