Canonical Allele Identifier: CA361739244

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772981C>G (hg19) ; chr5:g.150393418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393418C>G , CM000667.2:g.150393418C>G	GRCh38
NC_000005.9:g.149772981C>G , CM000667.1:g.149772981C>G	GRCh37
NC_000005.8:g.149753174C>G	NCBI36
NG_011341.1:g.40780C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3533C>G	ENSP00000390717.3:p.Ser1178Cys
ENST00000643257.2:c.3650C>G MANE Select	ENSP00000493815.1:p.Ser1217Cys
ENST00000650162.1:c.3305C>G	ENSP00000497075.1:p.Ser1102Cys
ENST00000674413.1:c.3049C>G
ENST00000323668.11:c.3416C>G	ENSP00000325223.6:p.Ser1139Cys
ENST00000377797.7:c.3647C>G	ENSP00000367028.4:p.Ser1216Cys
ENST00000427724.6:c.3533C>G	ENSP00000390717.2:p.Ser1178Cys
ENST00000439160.6:c.3536C>G	ENSP00000406888.2:p.Ser1179Cys
ENST00000445265.6:c.3419C>G	ENSP00000409944.2:p.Ser1140Cys
ENST00000504761.6:c.3647C>G	ENSP00000421655.2:p.Ser1216Cys
ENST00000513346.5:c.3647C>G	ENSP00000427484.1:p.Ser1216Cys
ENST00000514442.5:n.3697C>G
ENST00000515516.1:c.343-3325C>G	ENSP00000426471.1:n.343-3325C>G
NM_000356.3:c.3416C>G	NP_000347.2:p.Ser1139Cys
NM_001135243.1:c.3647C>G	NP_001128715.1:p.Ser1216Cys
NM_001135244.1:c.3536C>G	NP_001128716.1:p.Ser1179Cys
NM_001135245.1:c.3419C>G	NP_001128717.1:p.Ser1140Cys
NM_001195141.1:c.3533C>G	NP_001182070.1:p.Ser1178Cys
XM_005268502.2:c.3761C>G	XP_005268559.1:p.Ser1254Cys
XM_005268503.2:c.3758C>G	XP_005268560.1:p.Ser1253Cys
XM_005268504.2:c.3758C>G	XP_005268561.1:p.Ser1253Cys
XM_005268505.2:c.3650C>G	XP_005268562.1:p.Ser1217Cys
XM_005268506.2:c.3647C>G	XP_005268563.1:p.Ser1216Cys
XM_005268507.2:c.3530C>G	XP_005268564.1:p.Ser1177Cys
XM_011537678.1:c.3581C>G	XP_011535980.1:p.Ser1194Cys
XR_427778.1:n.3765C>G
XR_427780.1:n.3654C>G
XM_005268502.4:c.3761C>G	XP_005268559.1:p.Ser1254Cys
XM_005268503.4:c.3758C>G	XP_005268560.1:p.Ser1253Cys
XM_005268504.4:c.3758C>G	XP_005268561.1:p.Ser1253Cys
XM_005268505.4:c.3650C>G	XP_005268562.1:p.Ser1217Cys
XM_005268506.4:c.3647C>G	XP_005268563.1:p.Ser1216Cys
XM_005268507.4:c.3530C>G	XP_005268564.1:p.Ser1177Cys
XM_011537678.3:c.3581C>G	XP_011535980.1:p.Ser1194Cys
XM_017009792.2:c.3644C>G	XP_016865281.1:p.Ser1215Cys
XM_017009793.2:c.3470C>G	XP_016865282.1:p.Ser1157Cys
XM_017009794.2:c.3356C>G	XP_016865283.1:p.Ser1119Cys
XR_427778.3:n.3767C>G
XR_427780.3:n.3656C>G
NM_000356.4:c.3416C>G	NP_000347.2:p.Ser1139Cys
NM_001135244.2:c.3536C>G	NP_001128716.1:p.Ser1179Cys
NM_001135245.2:c.3419C>G	NP_001128717.1:p.Ser1140Cys
NM_001195141.2:c.3533C>G	NP_001182070.1:p.Ser1178Cys
NM_001371623.1:c.3650C>G MANE Select	NP_001358552.1:p.Ser1217Cys
NM_001135243.2:c.3647C>G	NP_001128715.1:p.Ser1216Cys