Canonical Allele Identifier: CA361739474

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149773013T>C (hg19) ; chr5:g.150393450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393450T>C , CM000667.2:g.150393450T>C	GRCh38
NC_000005.9:g.149773013T>C , CM000667.1:g.149773013T>C	GRCh37
NC_000005.8:g.149753206T>C	NCBI36
NG_011341.1:g.40812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3565T>C	ENSP00000390717.3:p.Ser1189Pro
ENST00000643257.2:c.3682T>C MANE Select	ENSP00000493815.1:p.Ser1228Pro
ENST00000650162.1:c.3337T>C	ENSP00000497075.1:p.Ser1113Pro
ENST00000674413.1:c.3081T>C
ENST00000323668.11:c.3448T>C	ENSP00000325223.6:p.Ser1150Pro
ENST00000377797.7:c.3679T>C	ENSP00000367028.4:p.Ser1227Pro
ENST00000427724.6:c.3565T>C	ENSP00000390717.2:p.Ser1189Pro
ENST00000439160.6:c.3568T>C	ENSP00000406888.2:p.Ser1190Pro
ENST00000445265.6:c.3451T>C	ENSP00000409944.2:p.Ser1151Pro
ENST00000504761.6:c.3679T>C	ENSP00000421655.2:p.Ser1227Pro
ENST00000513346.5:c.3679T>C	ENSP00000427484.1:p.Ser1227Pro
ENST00000514442.5:n.3729T>C
ENST00000515516.1:c.343-3293T>C	ENSP00000426471.1:n.343-3293T>C
NM_000356.3:c.3448T>C	NP_000347.2:p.Ser1150Pro
NM_001135243.1:c.3679T>C	NP_001128715.1:p.Ser1227Pro
NM_001135244.1:c.3568T>C	NP_001128716.1:p.Ser1190Pro
NM_001135245.1:c.3451T>C	NP_001128717.1:p.Ser1151Pro
NM_001195141.1:c.3565T>C	NP_001182070.1:p.Ser1189Pro
XM_005268502.2:c.3793T>C	XP_005268559.1:p.Ser1265Pro
XM_005268503.2:c.3790T>C	XP_005268560.1:p.Ser1264Pro
XM_005268504.2:c.3790T>C	XP_005268561.1:p.Ser1264Pro
XM_005268505.2:c.3682T>C	XP_005268562.1:p.Ser1228Pro
XM_005268506.2:c.3679T>C	XP_005268563.1:p.Ser1227Pro
XM_005268507.2:c.3562T>C	XP_005268564.1:p.Ser1188Pro
XM_011537678.1:c.3613T>C	XP_011535980.1:p.Ser1205Pro
XR_427778.1:n.3797T>C
XR_427780.1:n.3686T>C
XM_005268502.4:c.3793T>C	XP_005268559.1:p.Ser1265Pro
XM_005268503.4:c.3790T>C	XP_005268560.1:p.Ser1264Pro
XM_005268504.4:c.3790T>C	XP_005268561.1:p.Ser1264Pro
XM_005268505.4:c.3682T>C	XP_005268562.1:p.Ser1228Pro
XM_005268506.4:c.3679T>C	XP_005268563.1:p.Ser1227Pro
XM_005268507.4:c.3562T>C	XP_005268564.1:p.Ser1188Pro
XM_011537678.3:c.3613T>C	XP_011535980.1:p.Ser1205Pro
XM_017009792.2:c.3676T>C	XP_016865281.1:p.Ser1226Pro
XM_017009793.2:c.3502T>C	XP_016865282.1:p.Ser1168Pro
XM_017009794.2:c.3388T>C	XP_016865283.1:p.Ser1130Pro
XR_427778.3:n.3799T>C
XR_427780.3:n.3688T>C
NM_000356.4:c.3448T>C	NP_000347.2:p.Ser1150Pro
NM_001135244.2:c.3568T>C	NP_001128716.1:p.Ser1190Pro
NM_001135245.2:c.3451T>C	NP_001128717.1:p.Ser1151Pro
NM_001195141.2:c.3565T>C	NP_001182070.1:p.Ser1189Pro
NM_001371623.1:c.3682T>C MANE Select	NP_001358552.1:p.Ser1228Pro
NM_001135243.2:c.3679T>C	NP_001128715.1:p.Ser1227Pro