Canonical Allele Identifier: CA361739197

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772974G>T (hg19) ; chr5:g.150393411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393411G>T , CM000667.2:g.150393411G>T	GRCh38
NC_000005.9:g.149772974G>T , CM000667.1:g.149772974G>T	GRCh37
NC_000005.8:g.149753167G>T	NCBI36
NG_011341.1:g.40773G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3526G>T	ENSP00000390717.3:p.Ala1176Ser
ENST00000643257.2:c.3643G>T MANE Select	ENSP00000493815.1:p.Ala1215Ser
ENST00000650162.1:c.3298G>T	ENSP00000497075.1:p.Ala1100Ser
ENST00000674413.1:c.3042G>T
ENST00000323668.11:c.3409G>T	ENSP00000325223.6:p.Ala1137Ser
ENST00000377797.7:c.3640G>T	ENSP00000367028.4:p.Ala1214Ser
ENST00000427724.6:c.3526G>T	ENSP00000390717.2:p.Ala1176Ser
ENST00000439160.6:c.3529G>T	ENSP00000406888.2:p.Ala1177Ser
ENST00000445265.6:c.3412G>T	ENSP00000409944.2:p.Ala1138Ser
ENST00000504761.6:c.3640G>T	ENSP00000421655.2:p.Ala1214Ser
ENST00000513346.5:c.3640G>T	ENSP00000427484.1:p.Ala1214Ser
ENST00000514442.5:n.3690G>T
ENST00000515516.1:c.343-3332G>T	ENSP00000426471.1:n.343-3332G>T
NM_000356.3:c.3409G>T	NP_000347.2:p.Ala1137Ser
NM_001135243.1:c.3640G>T	NP_001128715.1:p.Ala1214Ser
NM_001135244.1:c.3529G>T	NP_001128716.1:p.Ala1177Ser
NM_001135245.1:c.3412G>T	NP_001128717.1:p.Ala1138Ser
NM_001195141.1:c.3526G>T	NP_001182070.1:p.Ala1176Ser
XM_005268502.2:c.3754G>T	XP_005268559.1:p.Ala1252Ser
XM_005268503.2:c.3751G>T	XP_005268560.1:p.Ala1251Ser
XM_005268504.2:c.3751G>T	XP_005268561.1:p.Ala1251Ser
XM_005268505.2:c.3643G>T	XP_005268562.1:p.Ala1215Ser
XM_005268506.2:c.3640G>T	XP_005268563.1:p.Ala1214Ser
XM_005268507.2:c.3523G>T	XP_005268564.1:p.Ala1175Ser
XM_011537678.1:c.3574G>T	XP_011535980.1:p.Ala1192Ser
XR_427778.1:n.3758G>T
XR_427780.1:n.3647G>T
XM_005268502.4:c.3754G>T	XP_005268559.1:p.Ala1252Ser
XM_005268503.4:c.3751G>T	XP_005268560.1:p.Ala1251Ser
XM_005268504.4:c.3751G>T	XP_005268561.1:p.Ala1251Ser
XM_005268505.4:c.3643G>T	XP_005268562.1:p.Ala1215Ser
XM_005268506.4:c.3640G>T	XP_005268563.1:p.Ala1214Ser
XM_005268507.4:c.3523G>T	XP_005268564.1:p.Ala1175Ser
XM_011537678.3:c.3574G>T	XP_011535980.1:p.Ala1192Ser
XM_017009792.2:c.3637G>T	XP_016865281.1:p.Ala1213Ser
XM_017009793.2:c.3463G>T	XP_016865282.1:p.Ala1155Ser
XM_017009794.2:c.3349G>T	XP_016865283.1:p.Ala1117Ser
XR_427778.3:n.3760G>T
XR_427780.3:n.3649G>T
NM_000356.4:c.3409G>T	NP_000347.2:p.Ala1137Ser
NM_001135244.2:c.3529G>T	NP_001128716.1:p.Ala1177Ser
NM_001135245.2:c.3412G>T	NP_001128717.1:p.Ala1138Ser
NM_001195141.2:c.3526G>T	NP_001182070.1:p.Ala1176Ser
NM_001371623.1:c.3643G>T MANE Select	NP_001358552.1:p.Ala1215Ser
NM_001135243.2:c.3640G>T	NP_001128715.1:p.Ala1214Ser