Canonical Allele Identifier: CA3511752

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398396A>G , CM000667.2:g.150398396A>G	GRCh38
NC_000005.9:g.149777959A>G , CM000667.1:g.149777959A>G	GRCh37
NC_000005.8:g.149758152A>G	NCBI36
NG_011341.1:g.45758A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4388A>G MANE Select	NP_001358552.1:p.Lys1463Arg
ENST00000643257.2:c.4388A>G MANE Select	ENSP00000493815.1:p.Lys1463Arg
NM_000356.3:c.4154A>G	NP_000347.2:p.Lys1385Arg
NM_000356.4:c.4154A>G	NP_000347.2:p.Lys1385Arg
NM_001135243.1:c.4385A>G	NP_001128715.1:p.Lys1462Arg
NM_001135243.2:c.4385A>G	NP_001128715.1:p.Lys1462Arg
NM_001135244.1:c.4274A>G	NP_001128716.1:p.Lys1425Arg
NM_001135244.2:c.4274A>G	NP_001128716.1:p.Lys1425Arg
NM_001135245.1:c.4157A>G	NP_001128717.1:p.Lys1386Arg
NM_001135245.2:c.4157A>G	NP_001128717.1:p.Lys1386Arg
NM_001195141.1:c.4271A>G	NP_001182070.1:p.Lys1424Arg
NM_001195141.2:c.4271A>G	NP_001182070.1:p.Lys1424Arg
ENST00000323668.11:c.4154A>G	ENSP00000325223.6:p.Lys1385Arg
ENST00000377797.7:c.4385A>G	ENSP00000367028.4:p.Lys1462Arg
ENST00000427724.7:c.4271A>G	ENSP00000390717.3:p.Lys1424Arg
ENST00000439160.6:c.4274A>G	ENSP00000406888.2:p.Lys1425Arg
ENST00000445265.6:c.4157A>G	ENSP00000409944.2:p.Lys1386Arg
ENST00000504761.6:c.4385A>G	ENSP00000421655.2:p.Lys1462Arg
ENST00000513346.5:c.4385A>G	ENSP00000427484.1:p.Lys1462Arg
ENST00000515516.1:c.485A>G	ENSP00000426471.1:p.Lys162Arg
ENST00000650162.1:c.4043A>G	ENSP00000497075.1:p.Lys1348Arg
XM_005268502.2:c.4499A>G	XP_005268559.1:p.Lys1500Arg
XM_005268502.4:c.4499A>G	XP_005268559.1:p.Lys1500Arg
XM_005268503.2:c.4496A>G	XP_005268560.1:p.Lys1499Arg
XM_005268503.4:c.4496A>G	XP_005268560.1:p.Lys1499Arg
XM_005268504.2:c.4496A>G	XP_005268561.1:p.Lys1499Arg
XM_005268504.4:c.4496A>G	XP_005268561.1:p.Lys1499Arg
XM_005268505.2:c.4388A>G	XP_005268562.1:p.Lys1463Arg
XM_005268505.4:c.4388A>G	XP_005268562.1:p.Lys1463Arg
XM_005268506.2:c.4385A>G	XP_005268563.1:p.Lys1462Arg
XM_005268506.4:c.4385A>G	XP_005268563.1:p.Lys1462Arg
XM_005268507.2:c.4268A>G	XP_005268564.1:p.Lys1423Arg
XM_005268507.4:c.4268A>G	XP_005268564.1:p.Lys1423Arg
XM_011537678.1:c.4319A>G	XP_011535980.1:p.Lys1440Arg
XM_011537678.3:c.4319A>G	XP_011535980.1:p.Lys1440Arg
XM_017009792.2:c.4382A>G	XP_016865281.1:p.Lys1461Arg
XM_017009793.2:c.4208A>G	XP_016865282.1:p.Lys1403Arg
XM_017009794.2:c.4094A>G	XP_016865283.1:p.Lys1365Arg