Canonical Allele Identifier: CA380315671
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47355290G>C (hg19) chr11:g.47333739G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333739G>C , CM000673.2:g.47333739G>C GRCh38
NC_000011.9:g.47355290G>C , CM000673.1:g.47355290G>C GRCh37
NC_000011.8:g.47311866G>C NCBI36
NG_007667.1:g.23964C>G , LRG_386:g.23964C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3008C>G MANE Select ENSP00000442795.1:p.Pro1003Arg
ENST00000256993.8:c.3008C>G ENSP00000256993.5:p.Pro1003Arg
ENST00000399249.6:c.3008C>G ENSP00000382193.2:p.Pro1003Arg
ENST00000545968.5:c.3008C>G ENSP00000442795.1:p.Pro1003Arg
NM_000256.3:c.3008C>G , LRG_386t1:c.3008C>G MANE Select NP_000247.2:p.Pro1003Arg
XM_011520117.1:c.2990C>G XP_011518419.1:p.Pro997Arg
XM_011520118.1:c.2927C>G XP_011518420.1:p.Pro976Arg
Search 100 bp 5'
Search 100 bp 3'