Canonical Allele Identifier: CA3511714

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396835C>T , CM000667.2:g.150396835C>T	GRCh38
NC_000005.9:g.149776398C>T , CM000667.1:g.149776398C>T	GRCh37
NC_000005.8:g.149756591C>T	NCBI36
NG_011341.1:g.44197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.4221C>T	ENSP00000390717.3:p.Ser1407=
ENST00000643257.2:c.4338C>T MANE Select	ENSP00000493815.1:p.Ser1446=
ENST00000650162.1:c.3993C>T	ENSP00000497075.1:p.Ser1331=
ENST00000323668.11:c.4104C>T	ENSP00000325223.6:p.Ser1368=
ENST00000377797.7:c.4335C>T	ENSP00000367028.4:p.Ser1445=
ENST00000427724.6:c.4221C>T	ENSP00000390717.2:p.Ser1407=
ENST00000439160.6:c.4224C>T	ENSP00000406888.2:p.Ser1408=
ENST00000445265.6:c.4107C>T	ENSP00000409944.2:p.Ser1369=
ENST00000504761.6:c.4335C>T	ENSP00000421655.2:p.Ser1445=
ENST00000513346.5:c.4335C>T	ENSP00000427484.1:p.Ser1445=
ENST00000515516.1:c.435C>T	ENSP00000426471.1:p.Ser145=
NM_000356.3:c.4104C>T	NP_000347.2:p.Ser1368=
NM_001135243.1:c.4335C>T	NP_001128715.1:p.Ser1445=
NM_001135244.1:c.4224C>T	NP_001128716.1:p.Ser1408=
NM_001135245.1:c.4107C>T	NP_001128717.1:p.Ser1369=
NM_001195141.1:c.4221C>T	NP_001182070.1:p.Ser1407=
XM_005268502.2:c.4449C>T	XP_005268559.1:p.Ser1483=
XM_005268503.2:c.4446C>T	XP_005268560.1:p.Ser1482=
XM_005268504.2:c.4446C>T	XP_005268561.1:p.Ser1482=
XM_005268505.2:c.4338C>T	XP_005268562.1:p.Ser1446=
XM_005268506.2:c.4335C>T	XP_005268563.1:p.Ser1445=
XM_005268507.2:c.4218C>T	XP_005268564.1:p.Ser1406=
XM_011537678.1:c.4269C>T	XP_011535980.1:p.Ser1423=
XM_005268502.4:c.4449C>T	XP_005268559.1:p.Ser1483=
XM_005268503.4:c.4446C>T	XP_005268560.1:p.Ser1482=
XM_005268504.4:c.4446C>T	XP_005268561.1:p.Ser1482=
XM_005268505.4:c.4338C>T	XP_005268562.1:p.Ser1446=
XM_005268506.4:c.4335C>T	XP_005268563.1:p.Ser1445=
XM_005268507.4:c.4218C>T	XP_005268564.1:p.Ser1406=
XM_011537678.3:c.4269C>T	XP_011535980.1:p.Ser1423=
XM_017009792.2:c.4332C>T	XP_016865281.1:p.Ser1444=
XM_017009793.2:c.4158C>T	XP_016865282.1:p.Ser1386=
XM_017009794.2:c.4044C>T	XP_016865283.1:p.Ser1348=
XR_427780.3:n.4344C>T
NM_000356.4:c.4104C>T	NP_000347.2:p.Ser1368=
NM_001135244.2:c.4224C>T	NP_001128716.1:p.Ser1408=
NM_001135245.2:c.4107C>T	NP_001128717.1:p.Ser1369=
NM_001195141.2:c.4221C>T	NP_001182070.1:p.Ser1407=
NM_001371623.1:c.4338C>T MANE Select	NP_001358552.1:p.Ser1446=
NM_001135243.2:c.4335C>T	NP_001128715.1:p.Ser1445=