Canonical Allele Identifier: CA380315633
Gene: MYBPC3 HGNC NCBI

Linked Data

dbSNP Id: rs778132423

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47333730G>A , CM000673.2:g.47333730G>A GRCh38
NC_000011.9:g.47355281G>A , CM000673.1:g.47355281G>A GRCh37
NC_000011.8:g.47311857G>A NCBI36
NG_007667.1:g.23973C>T , LRG_386:g.23973C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.3017C>T MANE Select ENSP00000442795.1:p.Thr1006Ile
ENST00000256993.8:c.3017C>T ENSP00000256993.5:p.Thr1006Ile
ENST00000399249.6:c.3017C>T ENSP00000382193.2:p.Thr1006Ile
ENST00000545968.5:c.3017C>T ENSP00000442795.1:p.Thr1006Ile
NM_000256.3:c.3017C>T , LRG_386t1:c.3017C>T MANE Select NP_000247.2:p.Thr1006Ile
XM_011520117.1:c.2999C>T XP_011518419.1:p.Thr1000Ile
XM_011520118.1:c.2936C>T XP_011518420.1:p.Thr979Ile