Canonical Allele Identifier: CA380314169
Gene: MYBPC3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47354792T>G (hg19) chr11:g.47333241T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333241T>G , CM000673.2:g.47333241T>G GRCh38
NC_000011.9:g.47354792T>G , CM000673.1:g.47354792T>G GRCh37
NC_000011.8:g.47311368T>G NCBI36
NG_007667.1:g.24462A>C , LRG_386:g.24462A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3283A>C MANE Select ENSP00000442795.1:p.Thr1095Pro
ENST00000256993.8:c.3283A>C ENSP00000256993.5:p.Thr1095Pro
ENST00000399249.6:c.3283A>C ENSP00000382193.2:p.Thr1095Pro
ENST00000545968.5:c.3283A>C ENSP00000442795.1:p.Thr1095Pro
NM_000256.3:c.3283A>C , LRG_386t1:c.3283A>C MANE Select NP_000247.2:p.Thr1095Pro
XM_011520117.1:c.3265A>C XP_011518419.1:p.Thr1089Pro
XM_011520118.1:c.3202A>C XP_011518420.1:p.Thr1068Pro
Search 100 bp 5'
Search 100 bp 3'