Canonical Allele Identifier: CA361739107

Gene: TCOF1

Linked Data

• ClinVar Variation Id: 1705661
• ClinVar RCV Id: RCV002283975
• MyVariant Identifiers: chr5:g.149772962G>A (hg19) ; chr5:g.150393399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393399G>A , CM000667.2:g.150393399G>A	GRCh38
NC_000005.9:g.149772962G>A , CM000667.1:g.149772962G>A	GRCh37
NC_000005.8:g.149753155G>A	NCBI36
NG_011341.1:g.40761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3514G>A	ENSP00000390717.3:p.Gly1172Arg
ENST00000643257.2:c.3631G>A MANE Select	ENSP00000493815.1:p.Gly1211Arg
ENST00000650162.1:c.3286G>A	ENSP00000497075.1:p.Gly1096Arg
ENST00000674413.1:c.3030G>A
ENST00000323668.11:c.3397G>A	ENSP00000325223.6:p.Gly1133Arg
ENST00000377797.7:c.3628G>A	ENSP00000367028.4:p.Gly1210Arg
ENST00000427724.6:c.3514G>A	ENSP00000390717.2:p.Gly1172Arg
ENST00000439160.6:c.3517G>A	ENSP00000406888.2:p.Gly1173Arg
ENST00000445265.6:c.3400G>A	ENSP00000409944.2:p.Gly1134Arg
ENST00000504761.6:c.3628G>A	ENSP00000421655.2:p.Gly1210Arg
ENST00000513346.5:c.3628G>A	ENSP00000427484.1:p.Gly1210Arg
ENST00000514442.5:n.3678G>A
ENST00000515516.1:c.343-3344G>A	ENSP00000426471.1:n.343-3344G>A
NM_000356.3:c.3397G>A	NP_000347.2:p.Gly1133Arg
NM_001135243.1:c.3628G>A	NP_001128715.1:p.Gly1210Arg
NM_001135244.1:c.3517G>A	NP_001128716.1:p.Gly1173Arg
NM_001135245.1:c.3400G>A	NP_001128717.1:p.Gly1134Arg
NM_001195141.1:c.3514G>A	NP_001182070.1:p.Gly1172Arg
XM_005268502.2:c.3742G>A	XP_005268559.1:p.Gly1248Arg
XM_005268503.2:c.3739G>A	XP_005268560.1:p.Gly1247Arg
XM_005268504.2:c.3739G>A	XP_005268561.1:p.Gly1247Arg
XM_005268505.2:c.3631G>A	XP_005268562.1:p.Gly1211Arg
XM_005268506.2:c.3628G>A	XP_005268563.1:p.Gly1210Arg
XM_005268507.2:c.3511G>A	XP_005268564.1:p.Gly1171Arg
XM_011537678.1:c.3562G>A	XP_011535980.1:p.Gly1188Arg
XR_427778.1:n.3746G>A
XR_427780.1:n.3635G>A
XM_005268502.4:c.3742G>A	XP_005268559.1:p.Gly1248Arg
XM_005268503.4:c.3739G>A	XP_005268560.1:p.Gly1247Arg
XM_005268504.4:c.3739G>A	XP_005268561.1:p.Gly1247Arg
XM_005268505.4:c.3631G>A	XP_005268562.1:p.Gly1211Arg
XM_005268506.4:c.3628G>A	XP_005268563.1:p.Gly1210Arg
XM_005268507.4:c.3511G>A	XP_005268564.1:p.Gly1171Arg
XM_011537678.3:c.3562G>A	XP_011535980.1:p.Gly1188Arg
XM_017009792.2:c.3625G>A	XP_016865281.1:p.Gly1209Arg
XM_017009793.2:c.3451G>A	XP_016865282.1:p.Gly1151Arg
XM_017009794.2:c.3337G>A	XP_016865283.1:p.Gly1113Arg
XR_427778.3:n.3748G>A
XR_427780.3:n.3637G>A
NM_000356.4:c.3397G>A	NP_000347.2:p.Gly1133Arg
NM_001135244.2:c.3517G>A	NP_001128716.1:p.Gly1173Arg
NM_001135245.2:c.3400G>A	NP_001128717.1:p.Gly1134Arg
NM_001195141.2:c.3514G>A	NP_001182070.1:p.Gly1172Arg
NM_001371623.1:c.3631G>A MANE Select	NP_001358552.1:p.Gly1211Arg
NM_001135243.2:c.3628G>A	NP_001128715.1:p.Gly1210Arg