Canonical Allele Identifier: CA3511712

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396828A>C , CM000667.2:g.150396828A>C	GRCh38
NC_000005.9:g.149776391A>C , CM000667.1:g.149776391A>C	GRCh37
NC_000005.8:g.149756584A>C	NCBI36
NG_011341.1:g.44190A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4331A>C MANE Select	NP_001358552.1:p.Lys1444Thr
ENST00000643257.2:c.4331A>C MANE Select	ENSP00000493815.1:p.Lys1444Thr
NM_000356.3:c.4097A>C	NP_000347.2:p.Lys1366Thr
NM_000356.4:c.4097A>C	NP_000347.2:p.Lys1366Thr
NM_001135243.1:c.4328A>C	NP_001128715.1:p.Lys1443Thr
NM_001135243.2:c.4328A>C	NP_001128715.1:p.Lys1443Thr
NM_001135244.1:c.4217A>C	NP_001128716.1:p.Lys1406Thr
NM_001135244.2:c.4217A>C	NP_001128716.1:p.Lys1406Thr
NM_001135245.1:c.4100A>C	NP_001128717.1:p.Lys1367Thr
NM_001135245.2:c.4100A>C	NP_001128717.1:p.Lys1367Thr
NM_001195141.1:c.4214A>C	NP_001182070.1:p.Lys1405Thr
NM_001195141.2:c.4214A>C	NP_001182070.1:p.Lys1405Thr
ENST00000323668.11:c.4097A>C	ENSP00000325223.6:p.Lys1366Thr
ENST00000377797.7:c.4328A>C	ENSP00000367028.4:p.Lys1443Thr
ENST00000427724.6:c.4214A>C	ENSP00000390717.2:p.Lys1405Thr
ENST00000427724.7:c.4214A>C	ENSP00000390717.3:p.Lys1405Thr
ENST00000439160.6:c.4217A>C	ENSP00000406888.2:p.Lys1406Thr
ENST00000445265.6:c.4100A>C	ENSP00000409944.2:p.Lys1367Thr
ENST00000504761.6:c.4328A>C	ENSP00000421655.2:p.Lys1443Thr
ENST00000513346.5:c.4328A>C	ENSP00000427484.1:p.Lys1443Thr
ENST00000515516.1:c.428A>C	ENSP00000426471.1:p.Lys143Thr
ENST00000650162.1:c.3986A>C	ENSP00000497075.1:p.Lys1329Thr
XM_005268502.2:c.4442A>C	XP_005268559.1:p.Lys1481Thr
XM_005268502.4:c.4442A>C	XP_005268559.1:p.Lys1481Thr
XM_005268503.2:c.4439A>C	XP_005268560.1:p.Lys1480Thr
XM_005268503.4:c.4439A>C	XP_005268560.1:p.Lys1480Thr
XM_005268504.2:c.4439A>C	XP_005268561.1:p.Lys1480Thr
XM_005268504.4:c.4439A>C	XP_005268561.1:p.Lys1480Thr
XM_005268505.2:c.4331A>C	XP_005268562.1:p.Lys1444Thr
XM_005268505.4:c.4331A>C	XP_005268562.1:p.Lys1444Thr
XM_005268506.2:c.4328A>C	XP_005268563.1:p.Lys1443Thr
XM_005268506.4:c.4328A>C	XP_005268563.1:p.Lys1443Thr
XM_005268507.2:c.4211A>C	XP_005268564.1:p.Lys1404Thr
XM_005268507.4:c.4211A>C	XP_005268564.1:p.Lys1404Thr
XM_011537678.1:c.4262A>C	XP_011535980.1:p.Lys1421Thr
XM_011537678.3:c.4262A>C	XP_011535980.1:p.Lys1421Thr
XM_017009792.2:c.4325A>C	XP_016865281.1:p.Lys1442Thr
XM_017009793.2:c.4151A>C	XP_016865282.1:p.Lys1384Thr
XM_017009794.2:c.4037A>C	XP_016865283.1:p.Lys1346Thr
XR_427780.3:n.4337A>C