Canonical Allele Identifier: CA221688151
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs61897364
MyVariant Identifiers: chr11:g.47358901G>T (hg19) chr11:g.47337350G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47337350G>T , CM000673.2:g.47337350G>T GRCh38
NC_000011.9:g.47358901G>T , CM000673.1:g.47358901G>T GRCh37
NC_000011.8:g.47315477G>T NCBI36
NG_007667.1:g.20353C>A , LRG_386:g.20353C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.2602+41C>A MANE Select ENSP00000442795.1:n.2602+41C>A
ENST00000256993.8:c.2602+41C>A ENSP00000256993.5:n.2602+41C>A
ENST00000399249.6:c.2602+41C>A ENSP00000382193.2:n.2602+41C>A
ENST00000544791.1:c.*107+41C>A ENSP00000444259.1:n.*107+41C>A
ENST00000545968.5:c.2602+41C>A ENSP00000442795.1:n.2602+41C>A
NM_000256.3:c.2602+41C>A , LRG_386t1:c.2602+41C>A MANE Select NP_000247.2:n.2602+41C>A
XM_011520117.1:c.2584+41C>A XP_011518419.1:n.2584+41C>A
XM_011520118.1:c.2521+41C>A XP_011518420.1:n.2521+41C>A
Search 100 bp 5'
Search 100 bp 3'