Canonical Allele Identifier: CA380322032
Gene: MYBPC3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339779T>A , CM000673.2:g.47339779T>A GRCh38
NC_000011.9:g.47361330T>A , CM000673.1:g.47361330T>A GRCh37
NC_000011.8:g.47317906T>A NCBI36
NG_007667.1:g.17924A>T , LRG_386:g.17924A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1939A>T MANE Select ENSP00000442795.1:p.Ile647Phe
ENST00000256993.8:c.1939A>T ENSP00000256993.5:p.Ile647Phe
ENST00000399249.6:c.1939A>T ENSP00000382193.2:p.Ile647Phe
ENST00000544791.1:c.1939A>T ENSP00000444259.1:p.Ile647Phe
ENST00000545968.5:c.1939A>T ENSP00000442795.1:p.Ile647Phe
NM_000256.3:c.1939A>T , LRG_386t1:c.1939A>T MANE Select NP_000247.2:p.Ile647Phe
XM_011520117.1:c.1921A>T XP_011518419.1:p.Ile641Phe
XM_011520118.1:c.1939A>T XP_011518420.1:p.Ile647Phe