Canonical Allele Identifier: CA447409089

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396706G>A , CM000667.2:g.150396706G>A	GRCh38
NC_000005.9:g.149776269G>A , CM000667.1:g.149776269G>A	GRCh37
NC_000005.8:g.149756462G>A	NCBI36
NG_011341.1:g.44068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.4092G>A	ENSP00000390717.3:p.Lys1364=
ENST00000643257.2:c.4209G>A MANE Select	ENSP00000493815.1:p.Lys1403=
ENST00000650162.1:c.3864G>A	ENSP00000497075.1:p.Lys1288=
ENST00000674413.1:c.3608G>A
ENST00000323668.11:c.3975G>A	ENSP00000325223.6:p.Lys1325=
ENST00000377797.7:c.4206G>A	ENSP00000367028.4:p.Lys1402=
ENST00000427724.6:c.4092G>A	ENSP00000390717.2:p.Lys1364=
ENST00000439160.6:c.4095G>A	ENSP00000406888.2:p.Lys1365=
ENST00000445265.6:c.3978G>A	ENSP00000409944.2:p.Lys1326=
ENST00000504761.6:c.4206G>A	ENSP00000421655.2:p.Lys1402=
ENST00000513346.5:c.4206G>A	ENSP00000427484.1:p.Lys1402=
ENST00000515516.1:c.343-37G>A	ENSP00000426471.1:n.343-37G>A
NM_000356.3:c.3975G>A	NP_000347.2:p.Lys1325=
NM_001135243.1:c.4206G>A	NP_001128715.1:p.Lys1402=
NM_001135244.1:c.4095G>A	NP_001128716.1:p.Lys1365=
NM_001135245.1:c.3978G>A	NP_001128717.1:p.Lys1326=
NM_001195141.1:c.4092G>A	NP_001182070.1:p.Lys1364=
XM_005268502.2:c.4320G>A	XP_005268559.1:p.Lys1440=
XM_005268503.2:c.4317G>A	XP_005268560.1:p.Lys1439=
XM_005268504.2:c.4317G>A	XP_005268561.1:p.Lys1439=
XM_005268505.2:c.4209G>A	XP_005268562.1:p.Lys1403=
XM_005268506.2:c.4206G>A	XP_005268563.1:p.Lys1402=
XM_005268507.2:c.4089G>A	XP_005268564.1:p.Lys1363=
XM_011537678.1:c.4140G>A	XP_011535980.1:p.Lys1380=
XM_005268502.4:c.4320G>A	XP_005268559.1:p.Lys1440=
XM_005268503.4:c.4317G>A	XP_005268560.1:p.Lys1439=
XM_005268504.4:c.4317G>A	XP_005268561.1:p.Lys1439=
XM_005268505.4:c.4209G>A	XP_005268562.1:p.Lys1403=
XM_005268506.4:c.4206G>A	XP_005268563.1:p.Lys1402=
XM_005268507.4:c.4089G>A	XP_005268564.1:p.Lys1363=
XM_011537678.3:c.4140G>A	XP_011535980.1:p.Lys1380=
XM_017009792.2:c.4203G>A	XP_016865281.1:p.Lys1401=
XM_017009793.2:c.4029G>A	XP_016865282.1:p.Lys1343=
XM_017009794.2:c.3915G>A	XP_016865283.1:p.Lys1305=
XR_427778.3:n.4326G>A
XR_427780.3:n.4215G>A
NM_000356.4:c.3975G>A	NP_000347.2:p.Lys1325=
NM_001135244.2:c.4095G>A	NP_001128716.1:p.Lys1365=
NM_001135245.2:c.3978G>A	NP_001128717.1:p.Lys1326=
NM_001195141.2:c.4092G>A	NP_001182070.1:p.Lys1364=
NM_001371623.1:c.4209G>A MANE Select	NP_001358552.1:p.Lys1403=
NM_001135243.2:c.4206G>A	NP_001128715.1:p.Lys1402=