Canonical Allele Identifier: CA361738954

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772952T>A (hg19) ; chr5:g.150393389T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393389T>A , CM000667.2:g.150393389T>A	GRCh38
NC_000005.9:g.149772952T>A , CM000667.1:g.149772952T>A	GRCh37
NC_000005.8:g.149753145T>A	NCBI36
NG_011341.1:g.40751T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3504T>A	ENSP00000390717.3:p.Tyr1168Ter
ENST00000643257.2:c.3621T>A MANE Select	ENSP00000493815.1:p.Tyr1207Ter
ENST00000650162.1:c.3276T>A	ENSP00000497075.1:p.Tyr1092Ter
ENST00000674413.1:c.3020T>A
ENST00000323668.11:c.3387T>A	ENSP00000325223.6:p.Tyr1129Ter
ENST00000377797.7:c.3618T>A	ENSP00000367028.4:p.Tyr1206Ter
ENST00000427724.6:c.3504T>A	ENSP00000390717.2:p.Tyr1168Ter
ENST00000439160.6:c.3507T>A	ENSP00000406888.2:p.Tyr1169Ter
ENST00000445265.6:c.3390T>A	ENSP00000409944.2:p.Tyr1130Ter
ENST00000504761.6:c.3618T>A	ENSP00000421655.2:p.Tyr1206Ter
ENST00000513346.5:c.3618T>A	ENSP00000427484.1:p.Tyr1206Ter
ENST00000514442.5:n.3668T>A
ENST00000515516.1:c.343-3354T>A	ENSP00000426471.1:n.343-3354T>A
NM_000356.3:c.3387T>A	NP_000347.2:p.Tyr1129Ter
NM_001135243.1:c.3618T>A	NP_001128715.1:p.Tyr1206Ter
NM_001135244.1:c.3507T>A	NP_001128716.1:p.Tyr1169Ter
NM_001135245.1:c.3390T>A	NP_001128717.1:p.Tyr1130Ter
NM_001195141.1:c.3504T>A	NP_001182070.1:p.Tyr1168Ter
XM_005268502.2:c.3732T>A	XP_005268559.1:p.Tyr1244Ter
XM_005268503.2:c.3729T>A	XP_005268560.1:p.Tyr1243Ter
XM_005268504.2:c.3729T>A	XP_005268561.1:p.Tyr1243Ter
XM_005268505.2:c.3621T>A	XP_005268562.1:p.Tyr1207Ter
XM_005268506.2:c.3618T>A	XP_005268563.1:p.Tyr1206Ter
XM_005268507.2:c.3501T>A	XP_005268564.1:p.Tyr1167Ter
XM_011537678.1:c.3552T>A	XP_011535980.1:p.Tyr1184Ter
XR_427778.1:n.3736T>A
XR_427780.1:n.3625T>A
XM_005268502.4:c.3732T>A	XP_005268559.1:p.Tyr1244Ter
XM_005268503.4:c.3729T>A	XP_005268560.1:p.Tyr1243Ter
XM_005268504.4:c.3729T>A	XP_005268561.1:p.Tyr1243Ter
XM_005268505.4:c.3621T>A	XP_005268562.1:p.Tyr1207Ter
XM_005268506.4:c.3618T>A	XP_005268563.1:p.Tyr1206Ter
XM_005268507.4:c.3501T>A	XP_005268564.1:p.Tyr1167Ter
XM_011537678.3:c.3552T>A	XP_011535980.1:p.Tyr1184Ter
XM_017009792.2:c.3615T>A	XP_016865281.1:p.Tyr1205Ter
XM_017009793.2:c.3441T>A	XP_016865282.1:p.Tyr1147Ter
XM_017009794.2:c.3327T>A	XP_016865283.1:p.Tyr1109Ter
XR_427778.3:n.3738T>A
XR_427780.3:n.3627T>A
NM_000356.4:c.3387T>A	NP_000347.2:p.Tyr1129Ter
NM_001135244.2:c.3507T>A	NP_001128716.1:p.Tyr1169Ter
NM_001135245.2:c.3390T>A	NP_001128717.1:p.Tyr1130Ter
NM_001195141.2:c.3504T>A	NP_001182070.1:p.Tyr1168Ter
NM_001371623.1:c.3621T>A MANE Select	NP_001358552.1:p.Tyr1207Ter
NM_001135243.2:c.3618T>A	NP_001128715.1:p.Tyr1206Ter