Canonical Allele Identifier: CA361743048

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396638G>T , CM000667.2:g.150396638G>T	GRCh38
NC_000005.9:g.149776201G>T , CM000667.1:g.149776201G>T	GRCh37
NC_000005.8:g.149756394G>T	NCBI36
NG_011341.1:g.44000G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4141G>T MANE Select	NP_001358552.1:p.Glu1381Ter
ENST00000643257.2:c.4141G>T MANE Select	ENSP00000493815.1:p.Glu1381Ter
NM_000356.3:c.3907G>T	NP_000347.2:p.Glu1303Ter
NM_000356.4:c.3907G>T	NP_000347.2:p.Glu1303Ter
NM_001135243.1:c.4138G>T	NP_001128715.1:p.Glu1380Ter
NM_001135243.2:c.4138G>T	NP_001128715.1:p.Glu1380Ter
NM_001135244.1:c.4027G>T	NP_001128716.1:p.Glu1343Ter
NM_001135244.2:c.4027G>T	NP_001128716.1:p.Glu1343Ter
NM_001135245.1:c.3910G>T	NP_001128717.1:p.Glu1304Ter
NM_001135245.2:c.3910G>T	NP_001128717.1:p.Glu1304Ter
NM_001195141.1:c.4024G>T	NP_001182070.1:p.Glu1342Ter
NM_001195141.2:c.4024G>T	NP_001182070.1:p.Glu1342Ter
ENST00000323668.11:c.3907G>T	ENSP00000325223.6:p.Glu1303Ter
ENST00000377797.7:c.4138G>T	ENSP00000367028.4:p.Glu1380Ter
ENST00000427724.6:c.4024G>T	ENSP00000390717.2:p.Glu1342Ter
ENST00000427724.7:c.4024G>T	ENSP00000390717.3:p.Glu1342Ter
ENST00000439160.6:c.4027G>T	ENSP00000406888.2:p.Glu1343Ter
ENST00000445265.6:c.3910G>T	ENSP00000409944.2:p.Glu1304Ter
ENST00000504761.6:c.4138G>T	ENSP00000421655.2:p.Glu1380Ter
ENST00000513346.5:c.4138G>T	ENSP00000427484.1:p.Glu1380Ter
ENST00000515516.1:c.343-105G>T	ENSP00000426471.1:n.343-105G>T
ENST00000650162.1:c.3796G>T	ENSP00000497075.1:p.Glu1266Ter
ENST00000674413.1:c.3540G>T
XM_005268502.2:c.4252G>T	XP_005268559.1:p.Glu1418Ter
XM_005268502.4:c.4252G>T	XP_005268559.1:p.Glu1418Ter
XM_005268503.2:c.4249G>T	XP_005268560.1:p.Glu1417Ter
XM_005268503.4:c.4249G>T	XP_005268560.1:p.Glu1417Ter
XM_005268504.2:c.4249G>T	XP_005268561.1:p.Glu1417Ter
XM_005268504.4:c.4249G>T	XP_005268561.1:p.Glu1417Ter
XM_005268505.2:c.4141G>T	XP_005268562.1:p.Glu1381Ter
XM_005268505.4:c.4141G>T	XP_005268562.1:p.Glu1381Ter
XM_005268506.2:c.4138G>T	XP_005268563.1:p.Glu1380Ter
XM_005268506.4:c.4138G>T	XP_005268563.1:p.Glu1380Ter
XM_005268507.2:c.4021G>T	XP_005268564.1:p.Glu1341Ter
XM_005268507.4:c.4021G>T	XP_005268564.1:p.Glu1341Ter
XM_011537678.1:c.4072G>T	XP_011535980.1:p.Glu1358Ter
XM_011537678.3:c.4072G>T	XP_011535980.1:p.Glu1358Ter
XM_017009792.2:c.4135G>T	XP_016865281.1:p.Glu1379Ter
XM_017009793.2:c.3961G>T	XP_016865282.1:p.Glu1321Ter
XM_017009794.2:c.3847G>T	XP_016865283.1:p.Glu1283Ter
XR_427778.3:n.4258G>T
XR_427780.3:n.4147G>T