Canonical Allele Identifier: CA361742900

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396620G>T , CM000667.2:g.150396620G>T	GRCh38
NC_000005.9:g.149776183G>T , CM000667.1:g.149776183G>T	GRCh37
NC_000005.8:g.149756376G>T	NCBI36
NG_011341.1:g.43982G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4123G>T MANE Select	NP_001358552.1:p.Glu1375Ter
ENST00000643257.2:c.4123G>T MANE Select	ENSP00000493815.1:p.Glu1375Ter
NM_000356.3:c.3889G>T	NP_000347.2:p.Glu1297Ter
NM_000356.4:c.3889G>T	NP_000347.2:p.Glu1297Ter
NM_001135243.1:c.4120G>T	NP_001128715.1:p.Glu1374Ter
NM_001135243.2:c.4120G>T	NP_001128715.1:p.Glu1374Ter
NM_001135244.1:c.4009G>T	NP_001128716.1:p.Glu1337Ter
NM_001135244.2:c.4009G>T	NP_001128716.1:p.Glu1337Ter
NM_001135245.1:c.3892G>T	NP_001128717.1:p.Glu1298Ter
NM_001135245.2:c.3892G>T	NP_001128717.1:p.Glu1298Ter
NM_001195141.1:c.4006G>T	NP_001182070.1:p.Glu1336Ter
NM_001195141.2:c.4006G>T	NP_001182070.1:p.Glu1336Ter
ENST00000323668.11:c.3889G>T	ENSP00000325223.6:p.Glu1297Ter
ENST00000377797.7:c.4120G>T	ENSP00000367028.4:p.Glu1374Ter
ENST00000427724.6:c.4006G>T	ENSP00000390717.2:p.Glu1336Ter
ENST00000427724.7:c.4006G>T	ENSP00000390717.3:p.Glu1336Ter
ENST00000439160.6:c.4009G>T	ENSP00000406888.2:p.Glu1337Ter
ENST00000445265.6:c.3892G>T	ENSP00000409944.2:p.Glu1298Ter
ENST00000504761.6:c.4120G>T	ENSP00000421655.2:p.Glu1374Ter
ENST00000513346.5:c.4120G>T	ENSP00000427484.1:p.Glu1374Ter
ENST00000515516.1:c.343-123G>T	ENSP00000426471.1:n.343-123G>T
ENST00000650162.1:c.3778G>T	ENSP00000497075.1:p.Glu1260Ter
ENST00000674413.1:c.3522G>T
XM_005268502.2:c.4234G>T	XP_005268559.1:p.Glu1412Ter
XM_005268502.4:c.4234G>T	XP_005268559.1:p.Glu1412Ter
XM_005268503.2:c.4231G>T	XP_005268560.1:p.Glu1411Ter
XM_005268503.4:c.4231G>T	XP_005268560.1:p.Glu1411Ter
XM_005268504.2:c.4231G>T	XP_005268561.1:p.Glu1411Ter
XM_005268504.4:c.4231G>T	XP_005268561.1:p.Glu1411Ter
XM_005268505.2:c.4123G>T	XP_005268562.1:p.Glu1375Ter
XM_005268505.4:c.4123G>T	XP_005268562.1:p.Glu1375Ter
XM_005268506.2:c.4120G>T	XP_005268563.1:p.Glu1374Ter
XM_005268506.4:c.4120G>T	XP_005268563.1:p.Glu1374Ter
XM_005268507.2:c.4003G>T	XP_005268564.1:p.Glu1335Ter
XM_005268507.4:c.4003G>T	XP_005268564.1:p.Glu1335Ter
XM_011537678.1:c.4054G>T	XP_011535980.1:p.Glu1352Ter
XM_011537678.3:c.4054G>T	XP_011535980.1:p.Glu1352Ter
XM_017009792.2:c.4117G>T	XP_016865281.1:p.Glu1373Ter
XM_017009793.2:c.3943G>T	XP_016865282.1:p.Glu1315Ter
XM_017009794.2:c.3829G>T	XP_016865283.1:p.Glu1277Ter
XR_427778.3:n.4240G>T
XR_427780.3:n.4129G>T