Canonical Allele Identifier: CA3511755

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398401G>C , CM000667.2:g.150398401G>C	GRCh38
NC_000005.9:g.149777964G>C , CM000667.1:g.149777964G>C	GRCh37
NC_000005.8:g.149758157G>C	NCBI36
NG_011341.1:g.45763G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4393G>C MANE Select	NP_001358552.1:p.Ala1465Pro
ENST00000643257.2:c.4393G>C MANE Select	ENSP00000493815.1:p.Ala1465Pro
NM_000356.3:c.4159G>C	NP_000347.2:p.Ala1387Pro
NM_000356.4:c.4159G>C	NP_000347.2:p.Ala1387Pro
NM_001135243.1:c.4390G>C	NP_001128715.1:p.Ala1464Pro
NM_001135243.2:c.4390G>C	NP_001128715.1:p.Ala1464Pro
NM_001135244.1:c.4279G>C	NP_001128716.1:p.Ala1427Pro
NM_001135244.2:c.4279G>C	NP_001128716.1:p.Ala1427Pro
NM_001135245.1:c.4162G>C	NP_001128717.1:p.Ala1388Pro
NM_001135245.2:c.4162G>C	NP_001128717.1:p.Ala1388Pro
NM_001195141.1:c.4276G>C	NP_001182070.1:p.Ala1426Pro
NM_001195141.2:c.4276G>C	NP_001182070.1:p.Ala1426Pro
ENST00000323668.11:c.4159G>C	ENSP00000325223.6:p.Ala1387Pro
ENST00000377797.7:c.4390G>C	ENSP00000367028.4:p.Ala1464Pro
ENST00000427724.7:c.4276G>C	ENSP00000390717.3:p.Ala1426Pro
ENST00000439160.6:c.4279G>C	ENSP00000406888.2:p.Ala1427Pro
ENST00000445265.6:c.4162G>C	ENSP00000409944.2:p.Ala1388Pro
ENST00000504761.6:c.4390G>C	ENSP00000421655.2:p.Ala1464Pro
ENST00000513346.5:c.4390G>C	ENSP00000427484.1:p.Ala1464Pro
ENST00000515516.1:c.490G>C	ENSP00000426471.1:p.Ala164Pro
ENST00000650162.1:c.4048G>C	ENSP00000497075.1:p.Ala1350Pro
XM_005268502.2:c.4504G>C	XP_005268559.1:p.Ala1502Pro
XM_005268502.4:c.4504G>C	XP_005268559.1:p.Ala1502Pro
XM_005268503.2:c.4501G>C	XP_005268560.1:p.Ala1501Pro
XM_005268503.4:c.4501G>C	XP_005268560.1:p.Ala1501Pro
XM_005268504.2:c.4501G>C	XP_005268561.1:p.Ala1501Pro
XM_005268504.4:c.4501G>C	XP_005268561.1:p.Ala1501Pro
XM_005268505.2:c.4393G>C	XP_005268562.1:p.Ala1465Pro
XM_005268505.4:c.4393G>C	XP_005268562.1:p.Ala1465Pro
XM_005268506.2:c.4390G>C	XP_005268563.1:p.Ala1464Pro
XM_005268506.4:c.4390G>C	XP_005268563.1:p.Ala1464Pro
XM_005268507.2:c.4273G>C	XP_005268564.1:p.Ala1425Pro
XM_005268507.4:c.4273G>C	XP_005268564.1:p.Ala1425Pro
XM_011537678.1:c.4324G>C	XP_011535980.1:p.Ala1442Pro
XM_011537678.3:c.4324G>C	XP_011535980.1:p.Ala1442Pro
XM_017009792.2:c.4387G>C	XP_016865281.1:p.Ala1463Pro
XM_017009793.2:c.4213G>C	XP_016865282.1:p.Ala1405Pro
XM_017009794.2:c.4099G>C	XP_016865283.1:p.Ala1367Pro