Canonical Allele Identifier: CA1590927582

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396669C= , CM000667.2:g.150396669C=	GRCh38
NC_000005.9:g.149776232C= , CM000667.1:g.149776232C=	GRCh37
NC_000005.8:g.149756425C=	NCBI36
NG_011341.1:g.44031C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.4055C=	ENSP00000390717.3:p.Ala1352=
ENST00000643257.2:c.4172C= MANE Select	ENSP00000493815.1:p.Ala1391=
ENST00000650162.1:c.3827C=	ENSP00000497075.1:p.Ala1276=
ENST00000674413.1:c.3571C=
ENST00000323668.11:c.3938C=	ENSP00000325223.6:p.Ala1313=
ENST00000377797.7:c.4169C=	ENSP00000367028.4:p.Ala1390=
ENST00000427724.6:c.4055C=	ENSP00000390717.2:p.Ala1352=
ENST00000439160.6:c.4058C=	ENSP00000406888.2:p.Ala1353=
ENST00000445265.6:c.3941C=	ENSP00000409944.2:p.Ala1314=
ENST00000504761.6:c.4169C=	ENSP00000421655.2:p.Ala1390=
ENST00000513346.5:c.4169C=	ENSP00000427484.1:p.Ala1390=
ENST00000515516.1:c.343-74C=	ENSP00000426471.1:n.343-74C=
NM_000356.3:c.3938C=	NP_000347.2:p.Ala1313=
NM_001135243.1:c.4169C=	NP_001128715.1:p.Ala1390=
NM_001135244.1:c.4058C=	NP_001128716.1:p.Ala1353=
NM_001135245.1:c.3941C=	NP_001128717.1:p.Ala1314=
NM_001195141.1:c.4055C=	NP_001182070.1:p.Ala1352=
XM_005268502.2:c.4283C=	XP_005268559.1:p.Ala1428=
XM_005268503.2:c.4280C=	XP_005268560.1:p.Ala1427=
XM_005268504.2:c.4280C=	XP_005268561.1:p.Ala1427=
XM_005268505.2:c.4172C=	XP_005268562.1:p.Ala1391=
XM_005268506.2:c.4169C=	XP_005268563.1:p.Ala1390=
XM_005268507.2:c.4052C=	XP_005268564.1:p.Ala1351=
XM_011537678.1:c.4103C=	XP_011535980.1:p.Ala1368=
XM_005268502.4:c.4283C=	XP_005268559.1:p.Ala1428=
XM_005268503.4:c.4280C=	XP_005268560.1:p.Ala1427=
XM_005268504.4:c.4280C=	XP_005268561.1:p.Ala1427=
XM_005268505.4:c.4172C=	XP_005268562.1:p.Ala1391=
XM_005268506.4:c.4169C=	XP_005268563.1:p.Ala1390=
XM_005268507.4:c.4052C=	XP_005268564.1:p.Ala1351=
XM_011537678.3:c.4103C=	XP_011535980.1:p.Ala1368=
XM_017009792.2:c.4166C=	XP_016865281.1:p.Ala1389=
XM_017009793.2:c.3992C=	XP_016865282.1:p.Ala1331=
XM_017009794.2:c.3878C=	XP_016865283.1:p.Ala1293=
XR_427778.3:n.4289C=
XR_427780.3:n.4178C=
NM_000356.4:c.3938C=	NP_000347.2:p.Ala1313=
NM_001135244.2:c.4058C=	NP_001128716.1:p.Ala1353=
NM_001135245.2:c.3941C=	NP_001128717.1:p.Ala1314=
NM_001195141.2:c.4055C=	NP_001182070.1:p.Ala1352=
NM_001371623.1:c.4172C= MANE Select	NP_001358552.1:p.Ala1391=
NM_001135243.2:c.4169C=	NP_001128715.1:p.Ala1390=