Canonical Allele Identifier: CA361738988
Gene: TCOF1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150393390A>C , CM000667.2:g.150393390A>C GRCh38
NC_000005.9:g.149772953A>C , CM000667.1:g.149772953A>C GRCh37
NC_000005.8:g.149753146A>C NCBI36
NG_011341.1:g.40752A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000427724.7:c.3505A>C ENSP00000390717.3:p.Met1169Leu
ENST00000643257.2:c.3622A>C MANE Select ENSP00000493815.1:p.Met1208Leu
ENST00000650162.1:c.3277A>C ENSP00000497075.1:p.Met1093Leu
ENST00000674413.1:c.3021A>C
ENST00000323668.11:c.3388A>C ENSP00000325223.6:p.Met1130Leu
ENST00000377797.7:c.3619A>C ENSP00000367028.4:p.Met1207Leu
ENST00000427724.6:c.3505A>C ENSP00000390717.2:p.Met1169Leu
ENST00000439160.6:c.3508A>C ENSP00000406888.2:p.Met1170Leu
ENST00000445265.6:c.3391A>C ENSP00000409944.2:p.Met1131Leu
ENST00000504761.6:c.3619A>C ENSP00000421655.2:p.Met1207Leu
ENST00000513346.5:c.3619A>C ENSP00000427484.1:p.Met1207Leu
ENST00000514442.5:n.3669A>C
ENST00000515516.1:c.343-3353A>C ENSP00000426471.1:n.343-3353A>C
NM_000356.3:c.3388A>C NP_000347.2:p.Met1130Leu
NM_001135243.1:c.3619A>C NP_001128715.1:p.Met1207Leu
NM_001135244.1:c.3508A>C NP_001128716.1:p.Met1170Leu
NM_001135245.1:c.3391A>C NP_001128717.1:p.Met1131Leu
NM_001195141.1:c.3505A>C NP_001182070.1:p.Met1169Leu
XM_005268502.2:c.3733A>C XP_005268559.1:p.Met1245Leu
XM_005268503.2:c.3730A>C XP_005268560.1:p.Met1244Leu
XM_005268504.2:c.3730A>C XP_005268561.1:p.Met1244Leu
XM_005268505.2:c.3622A>C XP_005268562.1:p.Met1208Leu
XM_005268506.2:c.3619A>C XP_005268563.1:p.Met1207Leu
XM_005268507.2:c.3502A>C XP_005268564.1:p.Met1168Leu
XM_011537678.1:c.3553A>C XP_011535980.1:p.Met1185Leu
XR_427778.1:n.3737A>C
XR_427780.1:n.3626A>C
XM_005268502.4:c.3733A>C XP_005268559.1:p.Met1245Leu
XM_005268503.4:c.3730A>C XP_005268560.1:p.Met1244Leu
XM_005268504.4:c.3730A>C XP_005268561.1:p.Met1244Leu
XM_005268505.4:c.3622A>C XP_005268562.1:p.Met1208Leu
XM_005268506.4:c.3619A>C XP_005268563.1:p.Met1207Leu
XM_005268507.4:c.3502A>C XP_005268564.1:p.Met1168Leu
XM_011537678.3:c.3553A>C XP_011535980.1:p.Met1185Leu
XM_017009792.2:c.3616A>C XP_016865281.1:p.Met1206Leu
XM_017009793.2:c.3442A>C XP_016865282.1:p.Met1148Leu
XM_017009794.2:c.3328A>C XP_016865283.1:p.Met1110Leu
XR_427778.3:n.3739A>C
XR_427780.3:n.3628A>C
NM_000356.4:c.3388A>C NP_000347.2:p.Met1130Leu
NM_001135244.2:c.3508A>C NP_001128716.1:p.Met1170Leu
NM_001135245.2:c.3391A>C NP_001128717.1:p.Met1131Leu
NM_001195141.2:c.3505A>C NP_001182070.1:p.Met1169Leu
NM_001371623.1:c.3622A>C MANE Select NP_001358552.1:p.Met1208Leu
NM_001135243.2:c.3619A>C NP_001128715.1:p.Met1207Leu