Canonical Allele Identifier: CA361744346

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396844T>C , CM000667.2:g.150396844T>C	GRCh38
NC_000005.9:g.149776407T>C , CM000667.1:g.149776407T>C	GRCh37
NC_000005.8:g.149756600T>C	NCBI36
NG_011341.1:g.44206T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4345+2T>C MANE Select	NP_001358552.1:n.4345+2T>C
ENST00000643257.2:c.4345+2T>C MANE Select	ENSP00000493815.1:n.4345+2T>C
NM_000356.3:c.4111+2T>C	NP_000347.2:n.4111+2T>C
NM_000356.4:c.4111+2T>C	NP_000347.2:n.4111+2T>C
NM_001135243.1:c.4342+2T>C	NP_001128715.1:n.4342+2T>C
NM_001135243.2:c.4342+2T>C	NP_001128715.1:n.4342+2T>C
NM_001135244.1:c.4231+2T>C	NP_001128716.1:n.4231+2T>C
NM_001135244.2:c.4231+2T>C	NP_001128716.1:n.4231+2T>C
NM_001135245.1:c.4114+2T>C	NP_001128717.1:n.4114+2T>C
NM_001135245.2:c.4114+2T>C	NP_001128717.1:n.4114+2T>C
NM_001195141.1:c.4228+2T>C	NP_001182070.1:n.4228+2T>C
NM_001195141.2:c.4228+2T>C	NP_001182070.1:n.4228+2T>C
ENST00000323668.11:c.4111+2T>C	ENSP00000325223.6:n.4111+2T>C
ENST00000377797.7:c.4342+2T>C	ENSP00000367028.4:n.4342+2T>C
ENST00000427724.6:c.4228+2T>C	ENSP00000390717.2:n.4228+2T>C
ENST00000427724.7:c.4228+2T>C	ENSP00000390717.3:n.4228+2T>C
ENST00000439160.6:c.4231+2T>C	ENSP00000406888.2:n.4231+2T>C
ENST00000445265.6:c.4114+2T>C	ENSP00000409944.2:n.4114+2T>C
ENST00000504761.6:c.4342+2T>C	ENSP00000421655.2:n.4342+2T>C
ENST00000513346.5:c.4342+2T>C	ENSP00000427484.1:n.4342+2T>C
ENST00000515516.1:c.442+2T>C	ENSP00000426471.1:n.442+2T>C
ENST00000650162.1:c.4000+2T>C	ENSP00000497075.1:n.4000+2T>C
XM_005268502.2:c.4456+2T>C	XP_005268559.1:n.4456+2T>C
XM_005268502.4:c.4456+2T>C	XP_005268559.1:n.4456+2T>C
XM_005268503.2:c.4453+2T>C	XP_005268560.1:n.4453+2T>C
XM_005268503.4:c.4453+2T>C	XP_005268560.1:n.4453+2T>C
XM_005268504.2:c.4453+2T>C	XP_005268561.1:n.4453+2T>C
XM_005268504.4:c.4453+2T>C	XP_005268561.1:n.4453+2T>C
XM_005268505.2:c.4345+2T>C	XP_005268562.1:n.4345+2T>C
XM_005268505.4:c.4345+2T>C	XP_005268562.1:n.4345+2T>C
XM_005268506.2:c.4342+2T>C	XP_005268563.1:n.4342+2T>C
XM_005268506.4:c.4342+2T>C	XP_005268563.1:n.4342+2T>C
XM_005268507.2:c.4225+2T>C	XP_005268564.1:n.4225+2T>C
XM_005268507.4:c.4225+2T>C	XP_005268564.1:n.4225+2T>C
XM_011537678.1:c.4276+2T>C	XP_011535980.1:n.4276+2T>C
XM_011537678.3:c.4276+2T>C	XP_011535980.1:n.4276+2T>C
XM_017009792.2:c.4339+2T>C	XP_016865281.1:n.4339+2T>C
XM_017009793.2:c.4165+2T>C	XP_016865282.1:n.4165+2T>C
XM_017009794.2:c.4051+2T>C	XP_016865283.1:n.4051+2T>C