Canonical Allele Identifier: CA380312848
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332685G>C , CM000673.2:g.47332685G>C GRCh38
NC_000011.9:g.47354236G>C , CM000673.1:g.47354236G>C GRCh37
NC_000011.8:g.47310812G>C NCBI36
NG_007667.1:g.25018C>G , LRG_386:g.25018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3508C>G MANE Select ENSP00000442795.1:p.Pro1170Ala
ENST00000256993.8:c.3508C>G ENSP00000256993.5:p.Pro1170Ala
ENST00000399249.6:c.3508C>G ENSP00000382193.2:p.Pro1170Ala
ENST00000545968.5:c.3508C>G ENSP00000442795.1:p.Pro1170Ala
NM_000256.3:c.3508C>G , LRG_386t1:c.3508C>G MANE Select NP_000247.2:p.Pro1170Ala
XM_011520117.1:c.3490C>G XP_011518419.1:p.Pro1164Ala
XM_011520118.1:c.3427C>G XP_011518420.1:p.Pro1143Ala