Canonical Allele Identifier: CA3511450

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150391601G>A , CM000667.2:g.150391601G>A	GRCh38
NC_000005.9:g.149771164G>A , CM000667.1:g.149771164G>A	GRCh37
NC_000005.8:g.149751357G>A	NCBI36
NG_011341.1:g.38963G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.3241G>A MANE Select	NP_001358552.1:p.Ala1081Thr
ENST00000643257.2:c.3241G>A MANE Select	ENSP00000493815.1:p.Ala1081Thr
NM_000356.3:c.3010G>A	NP_000347.2:p.Ala1004Thr
NM_000356.4:c.3010G>A	NP_000347.2:p.Ala1004Thr
NM_001135243.1:c.3241G>A	NP_001128715.1:p.Ala1081Thr
NM_001135243.2:c.3241G>A	NP_001128715.1:p.Ala1081Thr
NM_001135244.1:c.3184-356G>A	NP_001128716.1:n.3184-356G>A
NM_001135244.2:c.3184-356G>A	NP_001128716.1:n.3184-356G>A
NM_001135245.1:c.3010G>A	NP_001128717.1:p.Ala1004Thr
NM_001135245.2:c.3010G>A	NP_001128717.1:p.Ala1004Thr
NM_001195141.1:c.3184-356G>A	NP_001182070.1:n.3184-356G>A
NM_001195141.2:c.3184-356G>A	NP_001182070.1:n.3184-356G>A
ENST00000323668.11:c.3010G>A	ENSP00000325223.6:p.Ala1004Thr
ENST00000377797.7:c.3241G>A	ENSP00000367028.4:p.Ala1081Thr
ENST00000427724.6:c.3184-356G>A	ENSP00000390717.2:n.3184-356G>A
ENST00000427724.7:c.3184-356G>A	ENSP00000390717.3:n.3184-356G>A
ENST00000439160.6:c.3184-356G>A	ENSP00000406888.2:n.3184-356G>A
ENST00000445265.6:c.3010G>A	ENSP00000409944.2:p.Ala1004Thr
ENST00000504761.6:c.3241G>A	ENSP00000421655.2:p.Ala1081Thr
ENST00000506630.1:n.135G>A
ENST00000506767.1:c.675G>A
ENST00000513346.5:c.3295-356G>A	ENSP00000427484.1:n.3295-356G>A
ENST00000514442.5:n.2041G>A
ENST00000515516.1:c.343-5142G>A	ENSP00000426471.1:n.343-5142G>A
ENST00000650162.1:c.2953-356G>A	ENSP00000497075.1:n.2953-356G>A
ENST00000674413.1:c.2640G>A
XM_005268502.2:c.3352G>A	XP_005268559.1:p.Ala1118Thr
XM_005268502.4:c.3352G>A	XP_005268559.1:p.Ala1118Thr
XM_005268503.2:c.3349G>A	XP_005268560.1:p.Ala1117Thr
XM_005268503.4:c.3349G>A	XP_005268560.1:p.Ala1117Thr
XM_005268504.2:c.3352G>A	XP_005268561.1:p.Ala1118Thr
XM_005268504.4:c.3352G>A	XP_005268561.1:p.Ala1118Thr
XM_005268505.2:c.3241G>A	XP_005268562.1:p.Ala1081Thr
XM_005268505.4:c.3241G>A	XP_005268562.1:p.Ala1081Thr
XM_005268506.2:c.3295-356G>A	XP_005268563.1:n.3295-356G>A
XM_005268506.4:c.3295-356G>A	XP_005268563.1:n.3295-356G>A
XM_005268507.2:c.3121G>A	XP_005268564.1:p.Ala1041Thr
XM_005268507.4:c.3121G>A	XP_005268564.1:p.Ala1041Thr
XM_011537678.1:c.3172G>A	XP_011535980.1:p.Ala1058Thr
XM_011537678.3:c.3172G>A	XP_011535980.1:p.Ala1058Thr
XM_017009792.2:c.3295-356G>A	XP_016865281.1:n.3295-356G>A
XM_017009793.2:c.3061G>A	XP_016865282.1:p.Ala1021Thr
XM_017009794.2:c.3004-356G>A	XP_016865283.1:n.3004-356G>A
XR_427778.1:n.3356G>A
XR_427778.3:n.3358G>A
XR_427779.1:n.3299-356G>A
XR_427779.2:n.3301-356G>A
XR_427780.1:n.3245G>A
XR_427780.3:n.3247G>A