Canonical Allele Identifier: CA16619422

Gene: MYBPC1

Linked Data

• ClinVar Variation Id: 421282
• ClinVar RCV Id: RCV000486652
• dbSNP Id: rs1064795032
• MyVariant Identifiers: chr12:g.102043094T>G (hg19) ; chr12:g.101649316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101649316T>G , CM000674.2:g.101649316T>G	GRCh38
NC_000012.11:g.102043094T>G , CM000674.1:g.102043094T>G	GRCh37
NC_000012.10:g.100567225T>G	NCBI36
NG_031912.1:g.59386T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361466.7:c.1253T>G MANE Select	ENSP00000354849.2:p.Val418Gly
ENST00000361466.6:c.1253T>G	ENSP00000354849.2:p.Val418Gly
ENST00000361685.6:c.1253T>G	ENSP00000354845.2:p.Val418Gly
ENST00000392934.7:c.1139T>G	ENSP00000376665.3:p.Val380Gly
ENST00000441232.5:c.1253T>G	ENSP00000388989.3:p.Val418Gly
ENST00000452455.6:c.1178T>G	ENSP00000400908.2:p.Val393Gly
ENST00000536007.5:c.1121T>G	ENSP00000446128.1:p.Val374Gly
ENST00000541119.5:c.1142T>G	ENSP00000442847.1:p.Val381Gly
ENST00000545503.6:c.1178T>G	ENSP00000440034.2:p.Val393Gly
ENST00000547405.5:c.1100T>G	ENSP00000448175.1:p.Val367Gly
ENST00000547509.5:c.1136T>G	ENSP00000447362.1:p.Val379Gly
ENST00000549145.5:c.1217T>G	ENSP00000447660.1:p.Val406Gly
ENST00000550270.1:c.1178T>G	ENSP00000449702.1:p.Val393Gly
ENST00000550501.3:n.575-33288T>G
ENST00000551300.5:c.881T>G	ENSP00000447116.1:p.Val294Gly
ENST00000553190.5:c.1178T>G	ENSP00000447900.1:p.Val393Gly
NM_001254718.1:c.1178T>G	NP_001241647.1:p.Val393Gly
NM_001254719.1:c.1178T>G	NP_001241648.1:p.Val393Gly
NM_001254720.1:c.1142T>G	NP_001241649.1:p.Val381Gly
NM_001254721.1:c.1121T>G	NP_001241650.1:p.Val374Gly
NM_001254722.1:c.1100T>G	NP_001241651.1:p.Val367Gly
NM_001254723.1:c.1139T>G	NP_001241652.1:p.Val380Gly
NM_002465.3:c.1253T>G	NP_002456.2:p.Val418Gly
NM_206819.2:c.1253T>G	NP_996555.1:p.Val418Gly
NM_206820.2:c.1178T>G	NP_996556.1:p.Val393Gly
NM_206821.2:c.1178T>G	NP_996557.1:p.Val393Gly
XM_005268876.3:c.1217T>G	XP_005268933.1:p.Val406Gly
XM_006719405.2:c.1253T>G	XP_006719468.1:p.Val418Gly
XM_006719406.2:c.1253T>G	XP_006719469.1:p.Val418Gly
XM_006719407.2:c.1217T>G	XP_006719470.1:p.Val406Gly
XM_006719408.2:c.1253T>G	XP_006719471.1:p.Val418Gly
XM_006719409.2:c.1178T>G	XP_006719472.1:p.Val393Gly
XM_006719410.2:c.1253T>G	XP_006719473.1:p.Val418Gly
XM_006719411.2:c.1178T>G	XP_006719474.1:p.Val393Gly
XM_005268876.4:c.1217T>G	XP_005268933.1:p.Val406Gly
XM_006719405.4:c.1253T>G	XP_006719468.1:p.Val418Gly
XM_006719406.4:c.1253T>G	XP_006719469.1:p.Val418Gly
XM_006719407.3:c.1217T>G	XP_006719470.1:p.Val406Gly
XM_006719408.4:c.1253T>G	XP_006719471.1:p.Val418Gly
XM_006719409.3:c.1178T>G	XP_006719472.1:p.Val393Gly
XM_006719410.4:c.1253T>G	XP_006719473.1:p.Val418Gly
XM_006719411.3:c.1178T>G	XP_006719474.1:p.Val393Gly
XM_017019315.2:c.1196T>G	XP_016874804.1:p.Val399Gly
XM_017019316.2:c.1253T>G	XP_016874805.1:p.Val418Gly
XM_017019317.1:c.1178T>G	XP_016874806.1:p.Val393Gly
XM_017019318.2:c.1196T>G	XP_016874807.1:p.Val399Gly
XM_017019319.2:c.1121T>G	XP_016874808.1:p.Val374Gly
XM_017019320.1:c.1100T>G	XP_016874809.1:p.Val367Gly
XM_017019321.2:c.1121T>G	XP_016874810.1:p.Val374Gly
XM_017019322.1:c.1043T>G	XP_016874811.1:p.Val348Gly
XR_001749282.1:n.397+1500A>C
NM_002465.4:c.1253T>G MANE Select	NP_002456.2:p.Val418Gly
NM_001254718.2:c.1178T>G	NP_001241647.1:p.Val393Gly
NM_001254719.2:c.1178T>G	NP_001241648.1:p.Val393Gly
NM_001254720.2:c.1142T>G	NP_001241649.1:p.Val381Gly
NM_001254721.2:c.1121T>G	NP_001241650.1:p.Val374Gly
NM_001254722.2:c.1100T>G	NP_001241651.1:p.Val367Gly
NM_001254723.2:c.1139T>G	NP_001241652.1:p.Val380Gly
NM_206819.3:c.1253T>G	NP_996555.1:p.Val418Gly
NM_206820.3:c.1178T>G	NP_996556.1:p.Val393Gly
NM_206821.3:c.1178T>G	NP_996557.1:p.Val393Gly