Canonical Allele Identifier: CA2574815781

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2142851265

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47333510_47333514dup , CM000673.2:g.47333510_47333514dup	GRCh38
NC_000011.9:g.47355061_47355065dup , CM000673.1:g.47355061_47355065dup	GRCh37
NC_000011.8:g.47311637_47311641dup	NCBI36
NG_007667.1:g.24197_24201dup , LRG_386:g.24197_24201dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3190+51_3190+55dup MANE Select	ENSP00000442795.1:n.3190+51_3190+55dup
ENST00000256993.8:c.3190+51_3190+55dup	ENSP00000256993.5:n.3190+51_3190+55dup
ENST00000399249.6:c.3190+51_3190+55dup	ENSP00000382193.2:n.3190+51_3190+55dup
ENST00000545968.5:c.3190+51_3190+55dup	ENSP00000442795.1:n.3190+51_3190+55dup
NM_000256.3:c.3190+51_3190+55dup , LRG_386t1:c.3190+51_3190+55dup MANE Select	NP_000247.2:n.3190+51_3190+55dup
XM_011520117.1:c.3172+51_3172+55dup	XP_011518419.1:n.3172+51_3172+55dup
XM_011520118.1:c.3109+51_3109+55dup	XP_011518420.1:n.3109+51_3109+55dup