Canonical Allele Identifier: CA474428858
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47353711C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47332160C>T , CM000673.2:g.47332160C>T GRCh38
NC_000011.9:g.47353711C>T , CM000673.1:g.47353711C>T GRCh37
NC_000011.8:g.47310287C>T NCBI36
NG_007667.1:g.25543G>A , LRG_386:g.25543G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.3726G>A MANE Select ENSP00000442795.1:p.Lys1242=
ENST00000256993.8:c.3726G>A ENSP00000256993.5:p.Lys1242=
ENST00000399249.6:c.3726G>A ENSP00000382193.2:p.Lys1242=
ENST00000545968.5:c.3726G>A ENSP00000442795.1:p.Lys1242=
NM_000256.3:c.3726G>A , LRG_386t1:c.3726G>A MANE Select NP_000247.2:p.Lys1242=
XM_011520117.1:c.3708G>A XP_011518419.1:p.Lys1236=
XM_011520118.1:c.3645G>A XP_011518420.1:p.Lys1215=