Canonical Allele Identifier: CA13630061

Gene: MYBPC1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101646569G>A , CM000674.2:g.101646569G>A	GRCh38
NC_000012.11:g.102040347G>A , CM000674.1:g.102040347G>A	GRCh37
NC_000012.10:g.100564478G>A	NCBI36
NG_031912.1:g.56639G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002465.4:c.966-194G>A MANE Select	NP_002456.2:n.966-194G>A
ENST00000361466.7:c.966-194G>A MANE Select	ENSP00000354849.2:n.966-194G>A
NM_001254718.1:c.891-194G>A	NP_001241647.1:n.891-194G>A
NM_001254718.2:c.891-194G>A	NP_001241647.1:n.891-194G>A
NM_001254719.1:c.891-194G>A	NP_001241648.1:n.891-194G>A
NM_001254719.2:c.891-194G>A	NP_001241648.1:n.891-194G>A
NM_001254720.1:c.855-194G>A	NP_001241649.1:n.855-194G>A
NM_001254720.2:c.855-194G>A	NP_001241649.1:n.855-194G>A
NM_001254721.1:c.834-194G>A	NP_001241650.1:n.834-194G>A
NM_001254721.2:c.834-194G>A	NP_001241650.1:n.834-194G>A
NM_001254722.1:c.813-194G>A	NP_001241651.1:n.813-194G>A
NM_001254722.2:c.813-194G>A	NP_001241651.1:n.813-194G>A
NM_001254723.1:c.852-194G>A	NP_001241652.1:n.852-194G>A
NM_001254723.2:c.852-194G>A	NP_001241652.1:n.852-194G>A
NM_002465.3:c.966-194G>A	NP_002456.2:n.966-194G>A
NM_206819.2:c.966-194G>A	NP_996555.1:n.966-194G>A
NM_206819.3:c.966-194G>A	NP_996555.1:n.966-194G>A
NM_206820.2:c.891-194G>A	NP_996556.1:n.891-194G>A
NM_206820.3:c.891-194G>A	NP_996556.1:n.891-194G>A
NM_206821.2:c.891-194G>A	NP_996557.1:n.891-194G>A
NM_206821.3:c.891-194G>A	NP_996557.1:n.891-194G>A
ENST00000361466.6:c.966-194G>A	ENSP00000354849.2:n.966-194G>A
ENST00000361685.6:c.966-194G>A	ENSP00000354845.2:n.966-194G>A
ENST00000392934.7:c.852-194G>A	ENSP00000376665.3:n.852-194G>A
ENST00000441232.5:c.966-194G>A	ENSP00000388989.3:n.966-194G>A
ENST00000452455.6:c.891-194G>A	ENSP00000400908.2:n.891-194G>A
ENST00000536007.5:c.834-194G>A	ENSP00000446128.1:n.834-194G>A
ENST00000541119.5:c.855-194G>A	ENSP00000442847.1:n.855-194G>A
ENST00000545503.6:c.891-194G>A	ENSP00000440034.2:n.891-194G>A
ENST00000547405.5:c.813-194G>A	ENSP00000448175.1:n.813-194G>A
ENST00000547509.5:c.849-194G>A	ENSP00000447362.1:n.849-194G>A
ENST00000549145.5:c.930-194G>A	ENSP00000447660.1:n.930-194G>A
ENST00000550270.1:c.891-194G>A	ENSP00000449702.1:n.891-194G>A
ENST00000550501.3:n.574+31625G>A
ENST00000551300.5:c.594-194G>A	ENSP00000447116.1:n.594-194G>A
ENST00000553190.5:c.891-194G>A	ENSP00000447900.1:n.891-194G>A
XM_005268876.3:c.930-194G>A	XP_005268933.1:n.930-194G>A
XM_005268876.4:c.930-194G>A	XP_005268933.1:n.930-194G>A
XM_006719405.2:c.966-194G>A	XP_006719468.1:n.966-194G>A
XM_006719405.4:c.966-194G>A	XP_006719468.1:n.966-194G>A
XM_006719406.2:c.966-194G>A	XP_006719469.1:n.966-194G>A
XM_006719406.4:c.966-194G>A	XP_006719469.1:n.966-194G>A
XM_006719407.2:c.930-194G>A	XP_006719470.1:n.930-194G>A
XM_006719407.3:c.930-194G>A	XP_006719470.1:n.930-194G>A
XM_006719408.2:c.966-194G>A	XP_006719471.1:n.966-194G>A
XM_006719408.4:c.966-194G>A	XP_006719471.1:n.966-194G>A
XM_006719409.2:c.891-194G>A	XP_006719472.1:n.891-194G>A
XM_006719409.3:c.891-194G>A	XP_006719472.1:n.891-194G>A
XM_006719410.2:c.966-194G>A	XP_006719473.1:n.966-194G>A
XM_006719410.4:c.966-194G>A	XP_006719473.1:n.966-194G>A
XM_006719411.2:c.891-194G>A	XP_006719474.1:n.891-194G>A
XM_006719411.3:c.891-194G>A	XP_006719474.1:n.891-194G>A
XM_017019315.2:c.909-194G>A	XP_016874804.1:n.909-194G>A
XM_017019316.2:c.966-194G>A	XP_016874805.1:n.966-194G>A
XM_017019317.1:c.891-194G>A	XP_016874806.1:n.891-194G>A
XM_017019318.2:c.909-194G>A	XP_016874807.1:n.909-194G>A
XM_017019319.2:c.834-194G>A	XP_016874808.1:n.834-194G>A
XM_017019320.1:c.813-194G>A	XP_016874809.1:n.813-194G>A
XM_017019321.2:c.834-194G>A	XP_016874810.1:n.834-194G>A
XM_017019322.1:c.756-194G>A	XP_016874811.1:n.756-194G>A