Canonical Allele Identifier: CA447157835

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772967A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393404A>G , CM000667.2:g.150393404A>G	GRCh38
NC_000005.9:g.149772967A>G , CM000667.1:g.149772967A>G	GRCh37
NC_000005.8:g.149753160A>G	NCBI36
NG_011341.1:g.40766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3519A>G	ENSP00000390717.3:p.Leu1173=
ENST00000643257.2:c.3636A>G MANE Select	ENSP00000493815.1:p.Leu1212=
ENST00000650162.1:c.3291A>G	ENSP00000497075.1:p.Leu1097=
ENST00000674413.1:c.3035A>G
ENST00000323668.11:c.3402A>G	ENSP00000325223.6:p.Leu1134=
ENST00000377797.7:c.3633A>G	ENSP00000367028.4:p.Leu1211=
ENST00000427724.6:c.3519A>G	ENSP00000390717.2:p.Leu1173=
ENST00000439160.6:c.3522A>G	ENSP00000406888.2:p.Leu1174=
ENST00000445265.6:c.3405A>G	ENSP00000409944.2:p.Leu1135=
ENST00000504761.6:c.3633A>G	ENSP00000421655.2:p.Leu1211=
ENST00000513346.5:c.3633A>G	ENSP00000427484.1:p.Leu1211=
ENST00000514442.5:n.3683A>G
ENST00000515516.1:c.343-3339A>G	ENSP00000426471.1:n.343-3339A>G
NM_000356.3:c.3402A>G	NP_000347.2:p.Leu1134=
NM_001135243.1:c.3633A>G	NP_001128715.1:p.Leu1211=
NM_001135244.1:c.3522A>G	NP_001128716.1:p.Leu1174=
NM_001135245.1:c.3405A>G	NP_001128717.1:p.Leu1135=
NM_001195141.1:c.3519A>G	NP_001182070.1:p.Leu1173=
XM_005268502.2:c.3747A>G	XP_005268559.1:p.Leu1249=
XM_005268503.2:c.3744A>G	XP_005268560.1:p.Leu1248=
XM_005268504.2:c.3744A>G	XP_005268561.1:p.Leu1248=
XM_005268505.2:c.3636A>G	XP_005268562.1:p.Leu1212=
XM_005268506.2:c.3633A>G	XP_005268563.1:p.Leu1211=
XM_005268507.2:c.3516A>G	XP_005268564.1:p.Leu1172=
XM_011537678.1:c.3567A>G	XP_011535980.1:p.Leu1189=
XR_427778.1:n.3751A>G
XR_427780.1:n.3640A>G
XM_005268502.4:c.3747A>G	XP_005268559.1:p.Leu1249=
XM_005268503.4:c.3744A>G	XP_005268560.1:p.Leu1248=
XM_005268504.4:c.3744A>G	XP_005268561.1:p.Leu1248=
XM_005268505.4:c.3636A>G	XP_005268562.1:p.Leu1212=
XM_005268506.4:c.3633A>G	XP_005268563.1:p.Leu1211=
XM_005268507.4:c.3516A>G	XP_005268564.1:p.Leu1172=
XM_011537678.3:c.3567A>G	XP_011535980.1:p.Leu1189=
XM_017009792.2:c.3630A>G	XP_016865281.1:p.Leu1210=
XM_017009793.2:c.3456A>G	XP_016865282.1:p.Leu1152=
XM_017009794.2:c.3342A>G	XP_016865283.1:p.Leu1114=
XR_427778.3:n.3753A>G
XR_427780.3:n.3642A>G
NM_000356.4:c.3402A>G	NP_000347.2:p.Leu1134=
NM_001135244.2:c.3522A>G	NP_001128716.1:p.Leu1174=
NM_001135245.2:c.3405A>G	NP_001128717.1:p.Leu1135=
NM_001195141.2:c.3519A>G	NP_001182070.1:p.Leu1173=
NM_001371623.1:c.3636A>G MANE Select	NP_001358552.1:p.Leu1212=
NM_001135243.2:c.3633A>G	NP_001128715.1:p.Leu1211=