Canonical Allele Identifier: CA380327684
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343132A>C , CM000673.2:g.47343132A>C GRCh38
NC_000011.9:g.47364683A>C , CM000673.1:g.47364683A>C GRCh37
NC_000011.8:g.47321259A>C NCBI36
NG_007667.1:g.14571T>G , LRG_386:g.14571T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1240T>G MANE Select ENSP00000442795.1:p.Ser414Ala
ENST00000256993.8:c.1240T>G ENSP00000256993.5:p.Ser414Ala
ENST00000399249.6:c.1240T>G ENSP00000382193.2:p.Ser414Ala
ENST00000544791.1:c.1240T>G ENSP00000444259.1:p.Ser414Ala
ENST00000545968.5:c.1240T>G ENSP00000442795.1:p.Ser414Ala
NM_000256.3:c.1240T>G , LRG_386t1:c.1240T>G MANE Select NP_000247.2:p.Ser414Ala
XM_011520117.1:c.1222T>G XP_011518419.1:p.Ser408Ala
XM_011520118.1:c.1240T>G XP_011518420.1:p.Ser414Ala