Canonical Allele Identifier: CA6744615
Gene: MYBPC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101642461G>T , CM000674.2:g.101642461G>T GRCh38
NC_000012.11:g.102036239G>T , CM000674.1:g.102036239G>T GRCh37
NC_000012.10:g.100560370G>T NCBI36
NG_031912.1:g.52531G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002465.4:c.708G>T MANE Select NP_002456.2:p.Trp236Cys
ENST00000361466.7:c.708G>T MANE Select ENSP00000354849.2:p.Trp236Cys
NM_001254718.1:c.633G>T NP_001241647.1:p.Trp211Cys
NM_001254718.2:c.633G>T NP_001241647.1:p.Trp211Cys
NM_001254719.1:c.633G>T NP_001241648.1:p.Trp211Cys
NM_001254719.2:c.633G>T NP_001241648.1:p.Trp211Cys
NM_001254720.1:c.597G>T NP_001241649.1:p.Trp199Cys
NM_001254720.2:c.597G>T NP_001241649.1:p.Trp199Cys
NM_001254721.1:c.576G>T NP_001241650.1:p.Trp192Cys
NM_001254721.2:c.576G>T NP_001241650.1:p.Trp192Cys
NM_001254722.1:c.555G>T NP_001241651.1:p.Trp185Cys
NM_001254722.2:c.555G>T NP_001241651.1:p.Trp185Cys
NM_001254723.1:c.594G>T NP_001241652.1:p.Trp198Cys
NM_001254723.2:c.594G>T NP_001241652.1:p.Trp198Cys
NM_002465.3:c.708G>T NP_002456.2:p.Trp236Cys
NM_206819.2:c.708G>T NP_996555.1:p.Trp236Cys
NM_206819.3:c.708G>T NP_996555.1:p.Trp236Cys
NM_206820.2:c.633G>T NP_996556.1:p.Trp211Cys
NM_206820.3:c.633G>T NP_996556.1:p.Trp211Cys
NM_206821.2:c.633G>T NP_996557.1:p.Trp211Cys
NM_206821.3:c.633G>T NP_996557.1:p.Trp211Cys
ENST00000361466.6:c.708G>T ENSP00000354849.2:p.Trp236Cys
ENST00000361685.6:c.708G>T ENSP00000354845.2:p.Trp236Cys
ENST00000392934.7:c.594G>T ENSP00000376665.3:p.Trp198Cys
ENST00000441232.5:c.708G>T ENSP00000388989.3:p.Trp236Cys
ENST00000452455.6:c.633G>T ENSP00000400908.2:p.Trp211Cys
ENST00000536007.5:c.576G>T ENSP00000446128.1:p.Trp192Cys
ENST00000541119.5:c.597G>T ENSP00000442847.1:p.Trp199Cys
ENST00000545503.6:c.633G>T ENSP00000440034.2:p.Trp211Cys
ENST00000547405.5:c.555G>T ENSP00000448175.1:p.Trp185Cys
ENST00000547509.5:c.591G>T ENSP00000447362.1:p.Trp197Cys
ENST00000549145.5:c.672G>T ENSP00000447660.1:p.Trp224Cys
ENST00000550270.1:c.633G>T ENSP00000449702.1:p.Trp211Cys
ENST00000550501.3:n.574+27517G>T
ENST00000551300.5:c.336G>T ENSP00000447116.1:p.Trp112Cys
ENST00000553190.5:c.633G>T ENSP00000447900.1:p.Trp211Cys
XM_005268876.3:c.672G>T XP_005268933.1:p.Trp224Cys
XM_005268876.4:c.672G>T XP_005268933.1:p.Trp224Cys
XM_006719405.2:c.708G>T XP_006719468.1:p.Trp236Cys
XM_006719405.4:c.708G>T XP_006719468.1:p.Trp236Cys
XM_006719406.2:c.708G>T XP_006719469.1:p.Trp236Cys
XM_006719406.4:c.708G>T XP_006719469.1:p.Trp236Cys
XM_006719407.2:c.672G>T XP_006719470.1:p.Trp224Cys
XM_006719407.3:c.672G>T XP_006719470.1:p.Trp224Cys
XM_006719408.2:c.708G>T XP_006719471.1:p.Trp236Cys
XM_006719408.4:c.708G>T XP_006719471.1:p.Trp236Cys
XM_006719409.2:c.633G>T XP_006719472.1:p.Trp211Cys
XM_006719409.3:c.633G>T XP_006719472.1:p.Trp211Cys
XM_006719410.2:c.708G>T XP_006719473.1:p.Trp236Cys
XM_006719410.4:c.708G>T XP_006719473.1:p.Trp236Cys
XM_006719411.2:c.633G>T XP_006719474.1:p.Trp211Cys
XM_006719411.3:c.633G>T XP_006719474.1:p.Trp211Cys
XM_017019315.2:c.651G>T XP_016874804.1:p.Trp217Cys
XM_017019316.2:c.708G>T XP_016874805.1:p.Trp236Cys
XM_017019317.1:c.633G>T XP_016874806.1:p.Trp211Cys
XM_017019318.2:c.651G>T XP_016874807.1:p.Trp217Cys
XM_017019319.2:c.576G>T XP_016874808.1:p.Trp192Cys
XM_017019320.1:c.555G>T XP_016874809.1:p.Trp185Cys
XM_017019321.2:c.576G>T XP_016874810.1:p.Trp192Cys
XM_017019322.1:c.498G>T XP_016874811.1:p.Trp166Cys