Canonical Allele Identifier: CA380314792

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095879438
• MyVariant Identifiers: chr11:g.47355143A>C (hg19) ; chr11:g.47333592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333592A>C , CM000673.2:g.47333592A>C	GRCh38
NC_000011.9:g.47355143A>C , CM000673.1:g.47355143A>C	GRCh37
NC_000011.8:g.47311719A>C	NCBI36
NG_007667.1:g.24111T>G , LRG_386:g.24111T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3155T>G MANE Select	ENSP00000442795.1:p.Met1052Arg
ENST00000256993.8:c.3155T>G	ENSP00000256993.5:p.Met1052Arg
ENST00000399249.6:c.3155T>G	ENSP00000382193.2:p.Met1052Arg
ENST00000545968.5:c.3155T>G	ENSP00000442795.1:p.Met1052Arg
NM_000256.3:c.3155T>G , LRG_386t1:c.3155T>G MANE Select	NP_000247.2:p.Met1052Arg
XM_011520117.1:c.3137T>G	XP_011518419.1:p.Met1046Arg
XM_011520118.1:c.3074T>G	XP_011518420.1:p.Met1025Arg