Canonical Allele Identifier: CA361737515
Community Standard Title: NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)
Gene: TCOF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150392149C>T , CM000667.2:g.150392149C>T GRCh38
NC_000005.9:g.149771712C>T , CM000667.1:g.149771712C>T GRCh37
NC_000005.8:g.149751905C>T NCBI36
NG_011341.1:g.39511C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371623.1:c.3490C>T MANE Select NP_001358552.1:p.Gln1164Ter
ENST00000643257.2:c.3490C>T MANE Select ENSP00000493815.1:p.Gln1164Ter
NM_000356.3:c.3259C>T NP_000347.2:p.Gln1087Ter
NM_000356.4:c.3259C>T NP_000347.2:p.Gln1087Ter
NM_001135243.1:c.3490C>T NP_001128715.1:p.Gln1164Ter
NM_001135243.2:c.3490C>T NP_001128715.1:p.Gln1164Ter
NM_001135244.1:c.3376C>T NP_001128716.1:p.Gln1126Ter
NM_001135244.2:c.3376C>T NP_001128716.1:p.Gln1126Ter
NM_001135245.1:c.3259C>T NP_001128717.1:p.Gln1087Ter
NM_001135245.2:c.3259C>T NP_001128717.1:p.Gln1087Ter
NM_001195141.1:c.3376C>T NP_001182070.1:p.Gln1126Ter
NM_001195141.2:c.3376C>T NP_001182070.1:p.Gln1126Ter
ENST00000323668.11:c.3259C>T ENSP00000325223.6:p.Gln1087Ter
ENST00000377797.7:c.3490C>T ENSP00000367028.4:p.Gln1164Ter
ENST00000427724.6:c.3376C>T ENSP00000390717.2:p.Gln1126Ter
ENST00000427724.7:c.3376C>T ENSP00000390717.3:p.Gln1126Ter
ENST00000439160.6:c.3376C>T ENSP00000406888.2:p.Gln1126Ter
ENST00000445265.6:c.3259C>T ENSP00000409944.2:p.Gln1087Ter
ENST00000504761.6:c.3490C>T ENSP00000421655.2:p.Gln1164Ter
ENST00000506630.1:n.683C>T
ENST00000513346.5:c.3487C>T ENSP00000427484.1:p.Gln1163Ter
ENST00000514442.5:n.2428C>T
ENST00000515516.1:c.343-4594C>T ENSP00000426471.1:n.343-4594C>T
ENST00000650162.1:c.3145C>T ENSP00000497075.1:p.Gln1049Ter
ENST00000674413.1:c.2889C>T
XM_005268502.2:c.3601C>T XP_005268559.1:p.Gln1201Ter
XM_005268502.4:c.3601C>T XP_005268559.1:p.Gln1201Ter
XM_005268503.2:c.3598C>T XP_005268560.1:p.Gln1200Ter
XM_005268503.4:c.3598C>T XP_005268560.1:p.Gln1200Ter
XM_005268504.2:c.3601C>T XP_005268561.1:p.Gln1201Ter
XM_005268504.4:c.3601C>T XP_005268561.1:p.Gln1201Ter
XM_005268505.2:c.3490C>T XP_005268562.1:p.Gln1164Ter
XM_005268505.4:c.3490C>T XP_005268562.1:p.Gln1164Ter
XM_005268506.2:c.3487C>T XP_005268563.1:p.Gln1163Ter
XM_005268506.4:c.3487C>T XP_005268563.1:p.Gln1163Ter
XM_005268507.2:c.3370C>T XP_005268564.1:p.Gln1124Ter
XM_005268507.4:c.3370C>T XP_005268564.1:p.Gln1124Ter
XM_011537678.1:c.3421C>T XP_011535980.1:p.Gln1141Ter
XM_011537678.3:c.3421C>T XP_011535980.1:p.Gln1141Ter
XM_017009792.2:c.3487C>T XP_016865281.1:p.Gln1163Ter
XM_017009793.2:c.3310C>T XP_016865282.1:p.Gln1104Ter
XM_017009794.2:c.3196C>T XP_016865283.1:p.Gln1066Ter
XR_427778.1:n.3605C>T
XR_427778.3:n.3607C>T
XR_427779.1:n.3491C>T
XR_427779.2:n.3493C>T
XR_427780.1:n.3494C>T
XR_427780.3:n.3496C>T