Canonical Allele Identifier: CA380318153
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337445T>C , CM000673.2:g.47337445T>C GRCh38
NC_000011.9:g.47358996T>C , CM000673.1:g.47358996T>C GRCh37
NC_000011.8:g.47315572T>C NCBI36
NG_007667.1:g.20258A>G , LRG_386:g.20258A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2548A>G MANE Select ENSP00000442795.1:p.Asn850Asp
ENST00000256993.8:c.2548A>G ENSP00000256993.5:p.Asn850Asp
ENST00000399249.6:c.2548A>G ENSP00000382193.2:p.Asn850Asp
ENST00000544791.1:c.*53A>G ENSP00000444259.1:n.*53A>G
ENST00000545968.5:c.2548A>G ENSP00000442795.1:p.Asn850Asp
NM_000256.3:c.2548A>G , LRG_386t1:c.2548A>G MANE Select NP_000247.2:p.Asn850Asp
XM_011520117.1:c.2530A>G XP_011518419.1:p.Asn844Asp
XM_011520118.1:c.2467A>G XP_011518420.1:p.Asn823Asp