Canonical Allele Identifier: CA380315365
Gene: MYBPC3 HGNC NCBI

Linked Data

gnomAD v4: 11-47333685-A-G
MyVariant Identifiers: chr11:g.47355236A>G (hg19) chr11:g.47333685A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333685A>G , CM000673.2:g.47333685A>G GRCh38
NC_000011.9:g.47355236A>G , CM000673.1:g.47355236A>G GRCh37
NC_000011.8:g.47311812A>G NCBI36
NG_007667.1:g.24018T>C , LRG_386:g.24018T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3062T>C MANE Select ENSP00000442795.1:p.Ile1021Thr
ENST00000256993.8:c.3062T>C ENSP00000256993.5:p.Ile1021Thr
ENST00000399249.6:c.3062T>C ENSP00000382193.2:p.Ile1021Thr
ENST00000545968.5:c.3062T>C ENSP00000442795.1:p.Ile1021Thr
NM_000256.3:c.3062T>C , LRG_386t1:c.3062T>C MANE Select NP_000247.2:p.Ile1021Thr
XM_011520117.1:c.3044T>C XP_011518419.1:p.Ile1015Thr
XM_011520118.1:c.2981T>C XP_011518420.1:p.Ile994Thr
Search 100 bp 5'
Search 100 bp 3'