Canonical Allele Identifier: CA447408792

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150396355A>G , CM000667.2:g.150396355A>G	GRCh38
NC_000005.9:g.149775918A>G , CM000667.1:g.149775918A>G	GRCh37
NC_000005.8:g.149756111A>G	NCBI36
NG_011341.1:g.43717A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3741A>G	ENSP00000390717.3:p.Gln1247=
ENST00000643257.2:c.3858A>G MANE Select	ENSP00000493815.1:p.Gln1286=
ENST00000650162.1:c.3513A>G	ENSP00000497075.1:p.Gln1171=
ENST00000674413.1:c.3257A>G
ENST00000323668.11:c.3624A>G	ENSP00000325223.6:p.Gln1208=
ENST00000377797.7:c.3855A>G	ENSP00000367028.4:p.Gln1285=
ENST00000427724.6:c.3741A>G	ENSP00000390717.2:p.Gln1247=
ENST00000439160.6:c.3744A>G	ENSP00000406888.2:p.Gln1248=
ENST00000445265.6:c.3627A>G	ENSP00000409944.2:p.Gln1209=
ENST00000504761.6:c.3855A>G	ENSP00000421655.2:p.Gln1285=
ENST00000513346.5:c.3855A>G	ENSP00000427484.1:p.Gln1285=
ENST00000515516.1:c.343-388A>G	ENSP00000426471.1:n.343-388A>G
NM_000356.3:c.3624A>G	NP_000347.2:p.Gln1208=
NM_001135243.1:c.3855A>G	NP_001128715.1:p.Gln1285=
NM_001135244.1:c.3744A>G	NP_001128716.1:p.Gln1248=
NM_001135245.1:c.3627A>G	NP_001128717.1:p.Gln1209=
NM_001195141.1:c.3741A>G	NP_001182070.1:p.Gln1247=
XM_005268502.2:c.3969A>G	XP_005268559.1:p.Gln1323=
XM_005268503.2:c.3966A>G	XP_005268560.1:p.Gln1322=
XM_005268504.2:c.3966A>G	XP_005268561.1:p.Gln1322=
XM_005268505.2:c.3858A>G	XP_005268562.1:p.Gln1286=
XM_005268506.2:c.3855A>G	XP_005268563.1:p.Gln1285=
XM_005268507.2:c.3738A>G	XP_005268564.1:p.Gln1246=
XM_011537678.1:c.3789A>G	XP_011535980.1:p.Gln1263=
XM_005268502.4:c.3969A>G	XP_005268559.1:p.Gln1323=
XM_005268503.4:c.3966A>G	XP_005268560.1:p.Gln1322=
XM_005268504.4:c.3966A>G	XP_005268561.1:p.Gln1322=
XM_005268505.4:c.3858A>G	XP_005268562.1:p.Gln1286=
XM_005268506.4:c.3855A>G	XP_005268563.1:p.Gln1285=
XM_005268507.4:c.3738A>G	XP_005268564.1:p.Gln1246=
XM_011537678.3:c.3789A>G	XP_011535980.1:p.Gln1263=
XM_017009792.2:c.3852A>G	XP_016865281.1:p.Gln1284=
XM_017009793.2:c.3678A>G	XP_016865282.1:p.Gln1226=
XM_017009794.2:c.3564A>G	XP_016865283.1:p.Gln1188=
XR_427778.3:n.3975A>G
XR_427780.3:n.3864A>G
NM_000356.4:c.3624A>G	NP_000347.2:p.Gln1208=
NM_001135244.2:c.3744A>G	NP_001128716.1:p.Gln1248=
NM_001135245.2:c.3627A>G	NP_001128717.1:p.Gln1209=
NM_001195141.2:c.3741A>G	NP_001182070.1:p.Gln1247=
NM_001371623.1:c.3858A>G MANE Select	NP_001358552.1:p.Gln1286=
NM_001135243.2:c.3855A>G	NP_001128715.1:p.Gln1285=