Canonical Allele Identifier: CA3511656

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396549C>T , CM000667.2:g.150396549C>T	GRCh38
NC_000005.9:g.149776112C>T , CM000667.1:g.149776112C>T	GRCh37
NC_000005.8:g.149756305C>T	NCBI36
NG_011341.1:g.43911C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4052C>T MANE Select	NP_001358552.1:p.Ser1351Leu
ENST00000643257.2:c.4052C>T MANE Select	ENSP00000493815.1:p.Ser1351Leu
NM_000356.3:c.3818C>T	NP_000347.2:p.Ser1273Leu
NM_000356.4:c.3818C>T	NP_000347.2:p.Ser1273Leu
NM_001135243.1:c.4049C>T	NP_001128715.1:p.Ser1350Leu
NM_001135243.2:c.4049C>T	NP_001128715.1:p.Ser1350Leu
NM_001135244.1:c.3938C>T	NP_001128716.1:p.Ser1313Leu
NM_001135244.2:c.3938C>T	NP_001128716.1:p.Ser1313Leu
NM_001135245.1:c.3821C>T	NP_001128717.1:p.Ser1274Leu
NM_001135245.2:c.3821C>T	NP_001128717.1:p.Ser1274Leu
NM_001195141.1:c.3935C>T	NP_001182070.1:p.Ser1312Leu
NM_001195141.2:c.3935C>T	NP_001182070.1:p.Ser1312Leu
ENST00000323668.11:c.3818C>T	ENSP00000325223.6:p.Ser1273Leu
ENST00000377797.7:c.4049C>T	ENSP00000367028.4:p.Ser1350Leu
ENST00000427724.6:c.3935C>T	ENSP00000390717.2:p.Ser1312Leu
ENST00000427724.7:c.3935C>T	ENSP00000390717.3:p.Ser1312Leu
ENST00000439160.6:c.3938C>T	ENSP00000406888.2:p.Ser1313Leu
ENST00000445265.6:c.3821C>T	ENSP00000409944.2:p.Ser1274Leu
ENST00000504761.6:c.4049C>T	ENSP00000421655.2:p.Ser1350Leu
ENST00000513346.5:c.4049C>T	ENSP00000427484.1:p.Ser1350Leu
ENST00000515516.1:c.343-194C>T	ENSP00000426471.1:n.343-194C>T
ENST00000650162.1:c.3707C>T	ENSP00000497075.1:p.Ser1236Leu
ENST00000674413.1:c.3451C>T
XM_005268502.2:c.4163C>T	XP_005268559.1:p.Ser1388Leu
XM_005268502.4:c.4163C>T	XP_005268559.1:p.Ser1388Leu
XM_005268503.2:c.4160C>T	XP_005268560.1:p.Ser1387Leu
XM_005268503.4:c.4160C>T	XP_005268560.1:p.Ser1387Leu
XM_005268504.2:c.4160C>T	XP_005268561.1:p.Ser1387Leu
XM_005268504.4:c.4160C>T	XP_005268561.1:p.Ser1387Leu
XM_005268505.2:c.4052C>T	XP_005268562.1:p.Ser1351Leu
XM_005268505.4:c.4052C>T	XP_005268562.1:p.Ser1351Leu
XM_005268506.2:c.4049C>T	XP_005268563.1:p.Ser1350Leu
XM_005268506.4:c.4049C>T	XP_005268563.1:p.Ser1350Leu
XM_005268507.2:c.3932C>T	XP_005268564.1:p.Ser1311Leu
XM_005268507.4:c.3932C>T	XP_005268564.1:p.Ser1311Leu
XM_011537678.1:c.3983C>T	XP_011535980.1:p.Ser1328Leu
XM_011537678.3:c.3983C>T	XP_011535980.1:p.Ser1328Leu
XM_017009792.2:c.4046C>T	XP_016865281.1:p.Ser1349Leu
XM_017009793.2:c.3872C>T	XP_016865282.1:p.Ser1291Leu
XM_017009794.2:c.3758C>T	XP_016865283.1:p.Ser1253Leu
XR_427778.3:n.4169C>T
XR_427780.3:n.4058C>T