Canonical Allele Identifier: CA6744773

Gene: MYBPC1

Linked Data

• ClinVar Variation Id: 445419
• ClinVar RCV Id: RCV000514968
• dbSNP Id: rs142044795
• ExAC: 12:102043222 A / G
• gnomAD v2: 12-102043222-A-G
• gnomAD v3: 12-101649444-A-G
• gnomAD v4: 12-101649444-A-G
• MyVariant Identifiers: chr12:g.102043222A>G (hg19) ; chr12:g.101649444A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101649444A>G , CM000674.2:g.101649444A>G	GRCh38
NC_000012.11:g.102043222A>G , CM000674.1:g.102043222A>G	GRCh37
NC_000012.10:g.100567353A>G	NCBI36
NG_031912.1:g.59514A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361466.7:c.1363+18A>G MANE Select	ENSP00000354849.2:n.1363+18A>G
ENST00000361466.6:c.1363+18A>G	ENSP00000354849.2:n.1363+18A>G
ENST00000361685.6:c.1363+18A>G	ENSP00000354845.2:n.1363+18A>G
ENST00000392934.7:c.1249+18A>G	ENSP00000376665.3:n.1249+18A>G
ENST00000441232.5:c.1363+18A>G	ENSP00000388989.3:n.1363+18A>G
ENST00000452455.6:c.1288+18A>G	ENSP00000400908.2:n.1288+18A>G
ENST00000536007.5:c.1231+18A>G	ENSP00000446128.1:n.1231+18A>G
ENST00000541119.5:c.1252+18A>G	ENSP00000442847.1:n.1252+18A>G
ENST00000545503.6:c.1288+18A>G	ENSP00000440034.2:n.1288+18A>G
ENST00000547405.5:c.1210+18A>G	ENSP00000448175.1:n.1210+18A>G
ENST00000547509.5:c.1246+18A>G	ENSP00000447362.1:n.1246+18A>G
ENST00000549145.5:c.1327+18A>G	ENSP00000447660.1:n.1327+18A>G
ENST00000550270.1:c.1288+18A>G	ENSP00000449702.1:n.1288+18A>G
ENST00000550501.3:n.575-33160A>G
ENST00000551300.5:c.991+18A>G	ENSP00000447116.1:n.991+18A>G
ENST00000553190.5:c.1288+18A>G	ENSP00000447900.1:n.1288+18A>G
NM_001254718.1:c.1288+18A>G	NP_001241647.1:n.1288+18A>G
NM_001254719.1:c.1288+18A>G	NP_001241648.1:n.1288+18A>G
NM_001254720.1:c.1252+18A>G	NP_001241649.1:n.1252+18A>G
NM_001254721.1:c.1231+18A>G	NP_001241650.1:n.1231+18A>G
NM_001254722.1:c.1210+18A>G	NP_001241651.1:n.1210+18A>G
NM_001254723.1:c.1249+18A>G	NP_001241652.1:n.1249+18A>G
NM_002465.3:c.1363+18A>G	NP_002456.2:n.1363+18A>G
NM_206819.2:c.1363+18A>G	NP_996555.1:n.1363+18A>G
NM_206820.2:c.1288+18A>G	NP_996556.1:n.1288+18A>G
NM_206821.2:c.1288+18A>G	NP_996557.1:n.1288+18A>G
XM_005268876.3:c.1327+18A>G	XP_005268933.1:n.1327+18A>G
XM_006719405.2:c.1363+18A>G	XP_006719468.1:n.1363+18A>G
XM_006719406.2:c.1363+18A>G	XP_006719469.1:n.1363+18A>G
XM_006719407.2:c.1327+18A>G	XP_006719470.1:n.1327+18A>G
XM_006719408.2:c.1363+18A>G	XP_006719471.1:n.1363+18A>G
XM_006719409.2:c.1288+18A>G	XP_006719472.1:n.1288+18A>G
XM_006719410.2:c.1363+18A>G	XP_006719473.1:n.1363+18A>G
XM_006719411.2:c.1288+18A>G	XP_006719474.1:n.1288+18A>G
XM_005268876.4:c.1327+18A>G	XP_005268933.1:n.1327+18A>G
XM_006719405.4:c.1363+18A>G	XP_006719468.1:n.1363+18A>G
XM_006719406.4:c.1363+18A>G	XP_006719469.1:n.1363+18A>G
XM_006719407.3:c.1327+18A>G	XP_006719470.1:n.1327+18A>G
XM_006719408.4:c.1363+18A>G	XP_006719471.1:n.1363+18A>G
XM_006719409.3:c.1288+18A>G	XP_006719472.1:n.1288+18A>G
XM_006719410.4:c.1363+18A>G	XP_006719473.1:n.1363+18A>G
XM_006719411.3:c.1288+18A>G	XP_006719474.1:n.1288+18A>G
XM_017019315.2:c.1306+18A>G	XP_016874804.1:n.1306+18A>G
XM_017019316.2:c.1363+18A>G	XP_016874805.1:n.1363+18A>G
XM_017019317.1:c.1288+18A>G	XP_016874806.1:n.1288+18A>G
XM_017019318.2:c.1306+18A>G	XP_016874807.1:n.1306+18A>G
XM_017019319.2:c.1231+18A>G	XP_016874808.1:n.1231+18A>G
XM_017019320.1:c.1210+18A>G	XP_016874809.1:n.1210+18A>G
XM_017019321.2:c.1231+18A>G	XP_016874810.1:n.1231+18A>G
XM_017019322.1:c.1153+18A>G	XP_016874811.1:n.1153+18A>G
XR_001749282.1:n.397+1372T>C
NM_002465.4:c.1363+18A>G MANE Select	NP_002456.2:n.1363+18A>G
NM_001254718.2:c.1288+18A>G	NP_001241647.1:n.1288+18A>G
NM_001254719.2:c.1288+18A>G	NP_001241648.1:n.1288+18A>G
NM_001254720.2:c.1252+18A>G	NP_001241649.1:n.1252+18A>G
NM_001254721.2:c.1231+18A>G	NP_001241650.1:n.1231+18A>G
NM_001254722.2:c.1210+18A>G	NP_001241651.1:n.1210+18A>G
NM_001254723.2:c.1249+18A>G	NP_001241652.1:n.1249+18A>G
NM_206819.3:c.1363+18A>G	NP_996555.1:n.1363+18A>G
NM_206820.3:c.1288+18A>G	NP_996556.1:n.1288+18A>G
NM_206821.3:c.1288+18A>G	NP_996557.1:n.1288+18A>G