Canonical Allele Identifier: CA054574
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 450709
ClinVar RCV Id: RCV000522511 RCV000695171 RCV000772059 RCV000845439 RCV001535661 RCV002460081
dbSNP Id: rs551888783
ExAC: 11:47372097 G / A
gnomAD v2: 11-47372097-G-A
gnomAD v3: 11-47350546-G-A
gnomAD v4: 11-47350546-G-A
MyVariant Identifiers: chr11:g.47372097G>A (hg19) chr11:g.47350546G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47350546G>A , CM000673.2:g.47350546G>A GRCh38
NC_000011.9:g.47372097G>A , CM000673.1:g.47372097G>A GRCh37
NC_000011.8:g.47328673G>A NCBI36
NG_007667.1:g.7157C>T , LRG_386:g.7157C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545968.6:c.362C>T MANE Select ENSP00000442795.1:p.Pro121Leu
ENST00000256993.8:c.362C>T ENSP00000256993.5:p.Pro121Leu
ENST00000399249.6:c.362C>T ENSP00000382193.2:p.Pro121Leu
ENST00000544791.1:c.362C>T ENSP00000444259.1:p.Pro121Leu
ENST00000545968.5:c.362C>T ENSP00000442795.1:p.Pro121Leu
NM_000256.3:c.362C>T , LRG_386t1:c.362C>T MANE Select NP_000247.2:p.Pro121Leu
XM_011520117.1:c.362C>T XP_011518419.1:p.Pro121Leu
XM_011520118.1:c.362C>T XP_011518420.1:p.Pro121Leu
Search 100 bp 5'
Search 100 bp 3'