Canonical Allele Identifier: CA6744414

Gene: MYBPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101627769G>T , CM000674.2:g.101627769G>T	GRCh38
NC_000012.11:g.102021547G>T , CM000674.1:g.102021547G>T	GRCh37
NC_000012.10:g.100545678G>T	NCBI36
NG_031912.1:g.37839G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002465.4:c.143G>T MANE Select	NP_002456.2:p.Gly48Val
ENST00000361466.7:c.143G>T MANE Select	ENSP00000354849.2:p.Gly48Val
NM_001254718.1:c.104-1665G>T	NP_001241647.1:n.104-1665G>T
NM_001254718.2:c.104-1665G>T	NP_001241647.1:n.104-1665G>T
NM_001254719.1:c.104-1665G>T	NP_001241648.1:n.104-1665G>T
NM_001254719.2:c.104-1665G>T	NP_001241648.1:n.104-1665G>T
NM_001254720.1:c.68-1665G>T	NP_001241649.1:n.68-1665G>T
NM_001254720.2:c.68-1665G>T	NP_001241649.1:n.68-1665G>T
NM_001254721.1:c.104-1665G>T	NP_001241650.1:n.104-1665G>T
NM_001254721.2:c.104-1665G>T	NP_001241650.1:n.104-1665G>T
NM_001254722.1:c.26-1665G>T	NP_001241651.1:n.26-1665G>T
NM_001254722.2:c.26-1665G>T	NP_001241651.1:n.26-1665G>T
NM_001254723.1:c.64+859G>T	NP_001241652.1:n.64+859G>T
NM_001254723.2:c.64+859G>T	NP_001241652.1:n.64+859G>T
NM_002465.3:c.143G>T	NP_002456.2:p.Gly48Val
NM_206819.2:c.143G>T	NP_996555.1:p.Gly48Val
NM_206819.3:c.143G>T	NP_996555.1:p.Gly48Val
NM_206820.2:c.104-1665G>T	NP_996556.1:n.104-1665G>T
NM_206820.3:c.104-1665G>T	NP_996556.1:n.104-1665G>T
NM_206821.2:c.104-1665G>T	NP_996557.1:n.104-1665G>T
NM_206821.3:c.104-1665G>T	NP_996557.1:n.104-1665G>T
ENST00000361466.6:c.143G>T	ENSP00000354849.2:p.Gly48Val
ENST00000361685.6:c.143G>T	ENSP00000354845.2:p.Gly48Val
ENST00000392934.7:c.64+859G>T	ENSP00000376665.3:n.64+859G>T
ENST00000441232.5:c.143G>T	ENSP00000388989.3:p.Gly48Val
ENST00000452455.6:c.104-1665G>T	ENSP00000400908.2:n.104-1665G>T
ENST00000536007.5:c.104-1665G>T	ENSP00000446128.1:n.104-1665G>T
ENST00000541119.5:c.68-1665G>T	ENSP00000442847.1:n.68-1665G>T
ENST00000545503.6:c.104-1665G>T	ENSP00000440034.2:n.104-1665G>T
ENST00000547405.5:c.26-1665G>T	ENSP00000448175.1:n.26-1665G>T
ENST00000547509.5:c.62-1665G>T	ENSP00000447362.1:n.62-1665G>T
ENST00000547627.5:n.243G>T
ENST00000549145.5:c.142+859G>T	ENSP00000447660.1:n.142+859G>T
ENST00000550270.1:c.104-1665G>T	ENSP00000449702.1:n.104-1665G>T
ENST00000550312.5:n.59+859G>T
ENST00000550501.3:n.574+12825G>T
ENST00000550514.5:c.-194-1665G>T	ENSP00000447404.1:n.-194-1665G>T
ENST00000551300.5:c.-230G>T	ENSP00000447116.1:n.-230G>T
ENST00000552198.5:n.66-1665G>T
ENST00000553190.5:c.104-1665G>T	ENSP00000447900.1:n.104-1665G>T
ENST00000673861.1:c.142G>T
XM_005268876.3:c.142+859G>T	XP_005268933.1:n.142+859G>T
XM_005268876.4:c.142+859G>T	XP_005268933.1:n.142+859G>T
XM_006719405.2:c.143G>T	XP_006719468.1:p.Gly48Val
XM_006719405.4:c.143G>T	XP_006719468.1:p.Gly48Val
XM_006719406.2:c.143G>T	XP_006719469.1:p.Gly48Val
XM_006719406.4:c.143G>T	XP_006719469.1:p.Gly48Val
XM_006719407.2:c.142+859G>T	XP_006719470.1:n.142+859G>T
XM_006719407.3:c.142+859G>T	XP_006719470.1:n.142+859G>T
XM_006719408.2:c.143G>T	XP_006719471.1:p.Gly48Val
XM_006719408.4:c.143G>T	XP_006719471.1:p.Gly48Val
XM_006719409.2:c.104-1665G>T	XP_006719472.1:n.104-1665G>T
XM_006719409.3:c.104-1665G>T	XP_006719472.1:n.104-1665G>T
XM_006719410.2:c.143G>T	XP_006719473.1:p.Gly48Val
XM_006719410.4:c.143G>T	XP_006719473.1:p.Gly48Val
XM_006719411.2:c.104-1665G>T	XP_006719474.1:n.104-1665G>T
XM_006719411.3:c.104-1665G>T	XP_006719474.1:n.104-1665G>T
XM_017019315.2:c.143G>T	XP_016874804.1:p.Gly48Val
XM_017019316.2:c.143G>T	XP_016874805.1:p.Gly48Val
XM_017019317.1:c.104-1665G>T	XP_016874806.1:n.104-1665G>T
XM_017019318.2:c.143G>T	XP_016874807.1:p.Gly48Val
XM_017019319.2:c.104-1665G>T	XP_016874808.1:n.104-1665G>T
XM_017019320.1:c.26-1665G>T	XP_016874809.1:n.26-1665G>T
XM_017019321.2:c.104-1665G>T	XP_016874810.1:n.104-1665G>T
XM_017019322.1:c.26-1665G>T	XP_016874811.1:n.26-1665G>T