Canonical Allele Identifier: CA6745388

Gene: MYBPC1

Linked Data

• ClinVar Variation Id: 306749
• ClinVar RCV Id: RCV000347155 ; RCV001726104
• dbSNP Id: rs149742717
• ExAC: 12:102074276 A / G
• gnomAD v2: 12-102074276-A-G
• gnomAD v3: 12-101680498-A-G
• gnomAD v4: 12-101680498-A-G
• MyVariant Identifiers: chr12:g.102074276A>G (hg19) ; chr12:g.101680498A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101680498A>G , CM000674.2:g.101680498A>G	GRCh38
NC_000012.11:g.102074276A>G , CM000674.1:g.102074276A>G	GRCh37
NC_000012.10:g.100598407A>G	NCBI36
NG_031912.1:g.90568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361466.7:c.3402A>G MANE Select	ENSP00000354849.2:p.Thr1134=
ENST00000361466.6:c.3402A>G	ENSP00000354849.2:p.Thr1134=
ENST00000361685.6:c.3402A>G	ENSP00000354845.2:p.Thr1134=
ENST00000392934.7:c.3288A>G	ENSP00000376665.3:p.Thr1096=
ENST00000441232.5:c.*1051A>G	ENSP00000388989.3:n.*1051A>G
ENST00000452455.6:c.3381A>G	ENSP00000400908.2:p.Thr1127=
ENST00000536007.5:c.3270A>G	ENSP00000446128.1:p.Thr1090=
ENST00000541119.5:c.3291A>G	ENSP00000442847.1:p.Thr1097=
ENST00000545503.6:c.3327A>G	ENSP00000440034.2:p.Thr1109=
ENST00000547405.5:c.3249A>G	ENSP00000448175.1:p.Thr1083=
ENST00000547509.5:c.3285A>G	ENSP00000447362.1:p.Thr1095=
ENST00000549145.5:c.3420A>G	ENSP00000447660.1:p.Thr1140=
ENST00000549608.1:n.1641A>G
ENST00000550270.1:c.3381A>G	ENSP00000449702.1:p.Thr1127=
ENST00000550501.3:n.575-2106A>G
ENST00000551300.5:c.3030A>G	ENSP00000447116.1:p.Thr1010=
ENST00000553190.5:c.3327A>G	ENSP00000447900.1:p.Thr1109=
NM_001254718.1:c.3381A>G	NP_001241647.1:p.Thr1127=
NM_001254719.1:c.3327A>G	NP_001241648.1:p.Thr1109=
NM_001254720.1:c.3291A>G	NP_001241649.1:p.Thr1097=
NM_001254721.1:c.3270A>G	NP_001241650.1:p.Thr1090=
NM_001254722.1:c.3249A>G	NP_001241651.1:p.Thr1083=
NM_001254723.1:c.3288A>G	NP_001241652.1:p.Thr1096=
NM_002465.3:c.3402A>G	NP_002456.2:p.Thr1134=
NM_206819.2:c.3402A>G	NP_996555.1:p.Thr1134=
NM_206820.2:c.3381A>G	NP_996556.1:p.Thr1127=
NM_206821.2:c.3327A>G	NP_996557.1:p.Thr1109=
XM_005268876.3:c.3366A>G	XP_005268933.1:p.Thr1122=
XM_006719405.2:c.3456A>G	XP_006719468.1:p.Thr1152=
XM_006719406.2:c.3456A>G	XP_006719469.1:p.Thr1152=
XM_006719407.2:c.3420A>G	XP_006719470.1:p.Thr1140=
XM_006719408.2:c.3402A>G	XP_006719471.1:p.Thr1134=
XM_006719409.2:c.3381A>G	XP_006719472.1:p.Thr1127=
XM_006719410.2:c.3456A>G	XP_006719473.1:p.Thr1152=
XM_006719411.2:c.3381A>G	XP_006719474.1:p.Thr1127=
XM_005268876.4:c.3366A>G	XP_005268933.1:p.Thr1122=
XM_006719405.4:c.3456A>G	XP_006719468.1:p.Thr1152=
XM_006719406.4:c.3456A>G	XP_006719469.1:p.Thr1152=
XM_006719407.3:c.3420A>G	XP_006719470.1:p.Thr1140=
XM_006719408.4:c.3402A>G	XP_006719471.1:p.Thr1134=
XM_006719409.3:c.3381A>G	XP_006719472.1:p.Thr1127=
XM_006719410.4:c.3456A>G	XP_006719473.1:p.Thr1152=
XM_006719411.3:c.3381A>G	XP_006719474.1:p.Thr1127=
XM_017019315.2:c.3399A>G	XP_016874804.1:p.Thr1133=
XM_017019316.2:c.3456A>G	XP_016874805.1:p.Thr1152=
XM_017019317.1:c.3327A>G	XP_016874806.1:p.Thr1109=
XM_017019318.2:c.3345A>G	XP_016874807.1:p.Thr1115=
XM_017019319.2:c.3324A>G	XP_016874808.1:p.Thr1108=
XM_017019320.1:c.3303A>G	XP_016874809.1:p.Thr1101=
XM_017019321.2:c.3270A>G	XP_016874810.1:p.Thr1090=
XM_017019322.1:c.3192A>G	XP_016874811.1:p.Thr1064=
NM_002465.4:c.3402A>G MANE Select	NP_002456.2:p.Thr1134=
NM_001254718.2:c.3381A>G	NP_001241647.1:p.Thr1127=
NM_001254719.2:c.3327A>G	NP_001241648.1:p.Thr1109=
NM_001254720.2:c.3291A>G	NP_001241649.1:p.Thr1097=
NM_001254721.2:c.3270A>G	NP_001241650.1:p.Thr1090=
NM_001254722.2:c.3249A>G	NP_001241651.1:p.Thr1083=
NM_001254723.2:c.3288A>G	NP_001241652.1:p.Thr1096=
NM_206819.3:c.3402A>G	NP_996555.1:p.Thr1134=
NM_206820.3:c.3381A>G	NP_996556.1:p.Thr1127=
NM_206821.3:c.3327A>G	NP_996557.1:p.Thr1109=