Canonical Allele Identifier: CA361746123

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150399026A>C , CM000667.2:g.150399026A>C	GRCh38
NC_000005.9:g.149778589A>C , CM000667.1:g.149778589A>C	GRCh37
NC_000005.8:g.149758782A>C	NCBI36
NG_011341.1:g.46388A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.4331A>C	ENSP00000390717.3:p.Lys1444Thr
ENST00000643257.2:c.4448A>C MANE Select	ENSP00000493815.1:p.Lys1483Thr
ENST00000323668.11:c.4214A>C	ENSP00000325223.6:p.Lys1405Thr
ENST00000377797.7:c.4445A>C	ENSP00000367028.4:p.Lys1482Thr
ENST00000439160.6:c.4334A>C	ENSP00000406888.2:p.Lys1445Thr
ENST00000445265.6:c.4217A>C	ENSP00000409944.2:p.Lys1406Thr
ENST00000504761.6:c.4445A>C	ENSP00000421655.2:p.Lys1482Thr
ENST00000513346.5:c.4445A>C	ENSP00000427484.1:p.Lys1482Thr
ENST00000515516.1:c.545A>C	ENSP00000426471.1:p.Lys182Thr
NM_000356.3:c.4214A>C	NP_000347.2:p.Lys1405Thr
NM_001135243.1:c.4445A>C	NP_001128715.1:p.Lys1482Thr
NM_001135244.1:c.4334A>C	NP_001128716.1:p.Lys1445Thr
NM_001135245.1:c.4217A>C	NP_001128717.1:p.Lys1406Thr
NM_001195141.1:c.4331A>C	NP_001182070.1:p.Lys1444Thr
XM_005268502.2:c.4559A>C	XP_005268559.1:p.Lys1520Thr
XM_005268503.2:c.4556A>C	XP_005268560.1:p.Lys1519Thr
XM_005268504.2:c.4556A>C	XP_005268561.1:p.Lys1519Thr
XM_005268505.2:c.4448A>C	XP_005268562.1:p.Lys1483Thr
XM_005268506.2:c.4445A>C	XP_005268563.1:p.Lys1482Thr
XM_005268507.2:c.4328A>C	XP_005268564.1:p.Lys1443Thr
XM_011537678.1:c.4379A>C	XP_011535980.1:p.Lys1460Thr
XM_005268502.4:c.4559A>C	XP_005268559.1:p.Lys1520Thr
XM_005268503.4:c.4556A>C	XP_005268560.1:p.Lys1519Thr
XM_005268504.4:c.4556A>C	XP_005268561.1:p.Lys1519Thr
XM_005268505.4:c.4448A>C	XP_005268562.1:p.Lys1483Thr
XM_005268506.4:c.4445A>C	XP_005268563.1:p.Lys1482Thr
XM_005268507.4:c.4328A>C	XP_005268564.1:p.Lys1443Thr
XM_011537678.3:c.4379A>C	XP_011535980.1:p.Lys1460Thr
XM_017009792.2:c.4442A>C	XP_016865281.1:p.Lys1481Thr
XM_017009793.2:c.4268A>C	XP_016865282.1:p.Lys1423Thr
XM_017009794.2:c.4154A>C	XP_016865283.1:p.Lys1385Thr
NM_000356.4:c.4214A>C	NP_000347.2:p.Lys1405Thr
NM_001135244.2:c.4334A>C	NP_001128716.1:p.Lys1445Thr
NM_001135245.2:c.4217A>C	NP_001128717.1:p.Lys1406Thr
NM_001195141.2:c.4331A>C	NP_001182070.1:p.Lys1444Thr
NM_001371623.1:c.4448A>C MANE Select	NP_001358552.1:p.Lys1483Thr
NM_001135243.2:c.4445A>C	NP_001128715.1:p.Lys1482Thr