Canonical Allele Identifier: CA011522
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 42586
ClinVar RCV Id: RCV000035454 RCV000158134 RCV000208032 RCV001241239
dbSNP Id: rs397515938
gnomAD v4: 11-47339784-G-A
MyVariant Identifiers: chr11:g.47361335G>A (hg19) chr11:g.47339784G>A (hg38)
PubMed: PMID:27532257
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47339784G>A , CM000673.2:g.47339784G>A GRCh38
NC_000011.9:g.47361335G>A , CM000673.1:g.47361335G>A GRCh37
NC_000011.8:g.47317911G>A NCBI36
NG_007667.1:g.17919C>T , LRG_386:g.17919C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1934C>T MANE Select ENSP00000442795.1:p.Pro645Leu
ENST00000256993.8:c.1934C>T ENSP00000256993.5:p.Pro645Leu
ENST00000399249.6:c.1934C>T ENSP00000382193.2:p.Pro645Leu
ENST00000544791.1:c.1934C>T ENSP00000444259.1:p.Pro645Leu
ENST00000545968.5:c.1934C>T ENSP00000442795.1:p.Pro645Leu
NM_000256.3:c.1934C>T , LRG_386t1:c.1934C>T MANE Select NP_000247.2:p.Pro645Leu
XM_011520117.1:c.1916C>T XP_011518419.1:p.Pro639Leu
XM_011520118.1:c.1934C>T XP_011518420.1:p.Pro645Leu
Search 100 bp 5'
Search 100 bp 3'