Canonical Allele Identifier: CA380315457
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47355248T>C (hg19) chr11:g.47333697T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333697T>C , CM000673.2:g.47333697T>C GRCh38
NC_000011.9:g.47355248T>C , CM000673.1:g.47355248T>C GRCh37
NC_000011.8:g.47311824T>C NCBI36
NG_007667.1:g.24006A>G , LRG_386:g.24006A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3050A>G MANE Select ENSP00000442795.1:p.Glu1017Gly
ENST00000256993.8:c.3050A>G ENSP00000256993.5:p.Glu1017Gly
ENST00000399249.6:c.3050A>G ENSP00000382193.2:p.Glu1017Gly
ENST00000545968.5:c.3050A>G ENSP00000442795.1:p.Glu1017Gly
NM_000256.3:c.3050A>G , LRG_386t1:c.3050A>G MANE Select NP_000247.2:p.Glu1017Gly
XM_011520117.1:c.3032A>G XP_011518419.1:p.Glu1011Gly
XM_011520118.1:c.2969A>G XP_011518420.1:p.Glu990Gly
Search 100 bp 5'
Search 100 bp 3'