Canonical Allele Identifier: CA361745864

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398437A>T , CM000667.2:g.150398437A>T	GRCh38
NC_000005.9:g.149778000A>T , CM000667.1:g.149778000A>T	GRCh37
NC_000005.8:g.149758193A>T	NCBI36
NG_011341.1:g.45799A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4429A>T MANE Select	NP_001358552.1:p.Lys1477Ter
ENST00000643257.2:c.4429A>T MANE Select	ENSP00000493815.1:p.Lys1477Ter
NM_000356.3:c.4195A>T	NP_000347.2:p.Lys1399Ter
NM_000356.4:c.4195A>T	NP_000347.2:p.Lys1399Ter
NM_001135243.1:c.4426A>T	NP_001128715.1:p.Lys1476Ter
NM_001135243.2:c.4426A>T	NP_001128715.1:p.Lys1476Ter
NM_001135244.1:c.4315A>T	NP_001128716.1:p.Lys1439Ter
NM_001135244.2:c.4315A>T	NP_001128716.1:p.Lys1439Ter
NM_001135245.1:c.4198A>T	NP_001128717.1:p.Lys1400Ter
NM_001135245.2:c.4198A>T	NP_001128717.1:p.Lys1400Ter
NM_001195141.1:c.4312A>T	NP_001182070.1:p.Lys1438Ter
NM_001195141.2:c.4312A>T	NP_001182070.1:p.Lys1438Ter
ENST00000323668.11:c.4195A>T	ENSP00000325223.6:p.Lys1399Ter
ENST00000377797.7:c.4426A>T	ENSP00000367028.4:p.Lys1476Ter
ENST00000427724.7:c.4312A>T	ENSP00000390717.3:p.Lys1438Ter
ENST00000439160.6:c.4315A>T	ENSP00000406888.2:p.Lys1439Ter
ENST00000445265.6:c.4198A>T	ENSP00000409944.2:p.Lys1400Ter
ENST00000504761.6:c.4426A>T	ENSP00000421655.2:p.Lys1476Ter
ENST00000513346.5:c.4426A>T	ENSP00000427484.1:p.Lys1476Ter
ENST00000515516.1:c.526A>T	ENSP00000426471.1:p.Lys176Ter
XM_005268502.2:c.4540A>T	XP_005268559.1:p.Lys1514Ter
XM_005268502.4:c.4540A>T	XP_005268559.1:p.Lys1514Ter
XM_005268503.2:c.4537A>T	XP_005268560.1:p.Lys1513Ter
XM_005268503.4:c.4537A>T	XP_005268560.1:p.Lys1513Ter
XM_005268504.2:c.4537A>T	XP_005268561.1:p.Lys1513Ter
XM_005268504.4:c.4537A>T	XP_005268561.1:p.Lys1513Ter
XM_005268505.2:c.4429A>T	XP_005268562.1:p.Lys1477Ter
XM_005268505.4:c.4429A>T	XP_005268562.1:p.Lys1477Ter
XM_005268506.2:c.4426A>T	XP_005268563.1:p.Lys1476Ter
XM_005268506.4:c.4426A>T	XP_005268563.1:p.Lys1476Ter
XM_005268507.2:c.4309A>T	XP_005268564.1:p.Lys1437Ter
XM_005268507.4:c.4309A>T	XP_005268564.1:p.Lys1437Ter
XM_011537678.1:c.4360A>T	XP_011535980.1:p.Lys1454Ter
XM_011537678.3:c.4360A>T	XP_011535980.1:p.Lys1454Ter
XM_017009792.2:c.4423A>T	XP_016865281.1:p.Lys1475Ter
XM_017009793.2:c.4249A>T	XP_016865282.1:p.Lys1417Ter
XM_017009794.2:c.4135A>T	XP_016865283.1:p.Lys1379Ter