Canonical Allele Identifier: CA361741637

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396411G>T , CM000667.2:g.150396411G>T	GRCh38
NC_000005.9:g.149775974G>T , CM000667.1:g.149775974G>T	GRCh37
NC_000005.8:g.149756167G>T	NCBI36
NG_011341.1:g.43773G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3797G>T	ENSP00000390717.3:p.Trp1266Leu
ENST00000643257.2:c.3914G>T MANE Select	ENSP00000493815.1:p.Trp1305Leu
ENST00000650162.1:c.3569G>T	ENSP00000497075.1:p.Trp1190Leu
ENST00000674413.1:c.3313G>T
ENST00000323668.11:c.3680G>T	ENSP00000325223.6:p.Trp1227Leu
ENST00000377797.7:c.3911G>T	ENSP00000367028.4:p.Trp1304Leu
ENST00000427724.6:c.3797G>T	ENSP00000390717.2:p.Trp1266Leu
ENST00000439160.6:c.3800G>T	ENSP00000406888.2:p.Trp1267Leu
ENST00000445265.6:c.3683G>T	ENSP00000409944.2:p.Trp1228Leu
ENST00000504761.6:c.3911G>T	ENSP00000421655.2:p.Trp1304Leu
ENST00000513346.5:c.3911G>T	ENSP00000427484.1:p.Trp1304Leu
ENST00000515516.1:c.343-332G>T	ENSP00000426471.1:n.343-332G>T
NM_000356.3:c.3680G>T	NP_000347.2:p.Trp1227Leu
NM_001135243.1:c.3911G>T	NP_001128715.1:p.Trp1304Leu
NM_001135244.1:c.3800G>T	NP_001128716.1:p.Trp1267Leu
NM_001135245.1:c.3683G>T	NP_001128717.1:p.Trp1228Leu
NM_001195141.1:c.3797G>T	NP_001182070.1:p.Trp1266Leu
XM_005268502.2:c.4025G>T	XP_005268559.1:p.Trp1342Leu
XM_005268503.2:c.4022G>T	XP_005268560.1:p.Trp1341Leu
XM_005268504.2:c.4022G>T	XP_005268561.1:p.Trp1341Leu
XM_005268505.2:c.3914G>T	XP_005268562.1:p.Trp1305Leu
XM_005268506.2:c.3911G>T	XP_005268563.1:p.Trp1304Leu
XM_005268507.2:c.3794G>T	XP_005268564.1:p.Trp1265Leu
XM_011537678.1:c.3845G>T	XP_011535980.1:p.Trp1282Leu
XM_005268502.4:c.4025G>T	XP_005268559.1:p.Trp1342Leu
XM_005268503.4:c.4022G>T	XP_005268560.1:p.Trp1341Leu
XM_005268504.4:c.4022G>T	XP_005268561.1:p.Trp1341Leu
XM_005268505.4:c.3914G>T	XP_005268562.1:p.Trp1305Leu
XM_005268506.4:c.3911G>T	XP_005268563.1:p.Trp1304Leu
XM_005268507.4:c.3794G>T	XP_005268564.1:p.Trp1265Leu
XM_011537678.3:c.3845G>T	XP_011535980.1:p.Trp1282Leu
XM_017009792.2:c.3908G>T	XP_016865281.1:p.Trp1303Leu
XM_017009793.2:c.3734G>T	XP_016865282.1:p.Trp1245Leu
XM_017009794.2:c.3620G>T	XP_016865283.1:p.Trp1207Leu
XR_427778.3:n.4031G>T
XR_427780.3:n.3920G>T
NM_000356.4:c.3680G>T	NP_000347.2:p.Trp1227Leu
NM_001135244.2:c.3800G>T	NP_001128716.1:p.Trp1267Leu
NM_001135245.2:c.3683G>T	NP_001128717.1:p.Trp1228Leu
NM_001195141.2:c.3797G>T	NP_001182070.1:p.Trp1266Leu
NM_001371623.1:c.3914G>T MANE Select	NP_001358552.1:p.Trp1305Leu
NM_001135243.2:c.3911G>T	NP_001128715.1:p.Trp1304Leu