Canonical Allele Identifier: CA3511757

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150398426C>T , CM000667.2:g.150398426C>T	GRCh38
NC_000005.9:g.149777989C>T , CM000667.1:g.149777989C>T	GRCh37
NC_000005.8:g.149758182C>T	NCBI36
NG_011341.1:g.45788C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.4418C>T MANE Select	NP_001358552.1:p.Pro1473Leu
ENST00000643257.2:c.4418C>T MANE Select	ENSP00000493815.1:p.Pro1473Leu
NM_000356.3:c.4184C>T	NP_000347.2:p.Pro1395Leu
NM_000356.4:c.4184C>T	NP_000347.2:p.Pro1395Leu
NM_001135243.1:c.4415C>T	NP_001128715.1:p.Pro1472Leu
NM_001135243.2:c.4415C>T	NP_001128715.1:p.Pro1472Leu
NM_001135244.1:c.4304C>T	NP_001128716.1:p.Pro1435Leu
NM_001135244.2:c.4304C>T	NP_001128716.1:p.Pro1435Leu
NM_001135245.1:c.4187C>T	NP_001128717.1:p.Pro1396Leu
NM_001135245.2:c.4187C>T	NP_001128717.1:p.Pro1396Leu
NM_001195141.1:c.4301C>T	NP_001182070.1:p.Pro1434Leu
NM_001195141.2:c.4301C>T	NP_001182070.1:p.Pro1434Leu
ENST00000323668.11:c.4184C>T	ENSP00000325223.6:p.Pro1395Leu
ENST00000377797.7:c.4415C>T	ENSP00000367028.4:p.Pro1472Leu
ENST00000427724.7:c.4301C>T	ENSP00000390717.3:p.Pro1434Leu
ENST00000439160.6:c.4304C>T	ENSP00000406888.2:p.Pro1435Leu
ENST00000445265.6:c.4187C>T	ENSP00000409944.2:p.Pro1396Leu
ENST00000504761.6:c.4415C>T	ENSP00000421655.2:p.Pro1472Leu
ENST00000513346.5:c.4415C>T	ENSP00000427484.1:p.Pro1472Leu
ENST00000515516.1:c.515C>T	ENSP00000426471.1:p.Pro172Leu
ENST00000650162.1:c.4073C>T	ENSP00000497075.1:p.Pro1358Leu
XM_005268502.2:c.4529C>T	XP_005268559.1:p.Pro1510Leu
XM_005268502.4:c.4529C>T	XP_005268559.1:p.Pro1510Leu
XM_005268503.2:c.4526C>T	XP_005268560.1:p.Pro1509Leu
XM_005268503.4:c.4526C>T	XP_005268560.1:p.Pro1509Leu
XM_005268504.2:c.4526C>T	XP_005268561.1:p.Pro1509Leu
XM_005268504.4:c.4526C>T	XP_005268561.1:p.Pro1509Leu
XM_005268505.2:c.4418C>T	XP_005268562.1:p.Pro1473Leu
XM_005268505.4:c.4418C>T	XP_005268562.1:p.Pro1473Leu
XM_005268506.2:c.4415C>T	XP_005268563.1:p.Pro1472Leu
XM_005268506.4:c.4415C>T	XP_005268563.1:p.Pro1472Leu
XM_005268507.2:c.4298C>T	XP_005268564.1:p.Pro1433Leu
XM_005268507.4:c.4298C>T	XP_005268564.1:p.Pro1433Leu
XM_011537678.1:c.4349C>T	XP_011535980.1:p.Pro1450Leu
XM_011537678.3:c.4349C>T	XP_011535980.1:p.Pro1450Leu
XM_017009792.2:c.4412C>T	XP_016865281.1:p.Pro1471Leu
XM_017009793.2:c.4238C>T	XP_016865282.1:p.Pro1413Leu
XM_017009794.2:c.4124C>T	XP_016865283.1:p.Pro1375Leu