Canonical Allele Identifier: CA380314805
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333593T>A , CM000673.2:g.47333593T>A GRCh38
NC_000011.9:g.47355144T>A , CM000673.1:g.47355144T>A GRCh37
NC_000011.8:g.47311720T>A NCBI36
NG_007667.1:g.24110A>T , LRG_386:g.24110A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3154A>T MANE Select ENSP00000442795.1:p.Met1052Leu
ENST00000256993.8:c.3154A>T ENSP00000256993.5:p.Met1052Leu
ENST00000399249.6:c.3154A>T ENSP00000382193.2:p.Met1052Leu
ENST00000545968.5:c.3154A>T ENSP00000442795.1:p.Met1052Leu
NM_000256.3:c.3154A>T , LRG_386t1:c.3154A>T MANE Select NP_000247.2:p.Met1052Leu
XM_011520117.1:c.3136A>T XP_011518419.1:p.Met1046Leu
XM_011520118.1:c.3073A>T XP_011518420.1:p.Met1025Leu