Canonical Allele Identifier: CA447158170
Gene: TCOF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.149773054C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150393491C>T , CM000667.2:g.150393491C>T GRCh38
NC_000005.9:g.149773054C>T , CM000667.1:g.149773054C>T GRCh37
NC_000005.8:g.149753247C>T NCBI36
NG_011341.1:g.40853C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427724.7:c.3606C>T ENSP00000390717.3:p.Asp1202=
ENST00000643257.2:c.3723C>T MANE Select ENSP00000493815.1:p.Asp1241=
ENST00000650162.1:c.3378C>T ENSP00000497075.1:p.Asp1126=
ENST00000674413.1:c.3122C>T
ENST00000323668.11:c.3489C>T ENSP00000325223.6:p.Asp1163=
ENST00000377797.7:c.3720C>T ENSP00000367028.4:p.Asp1240=
ENST00000427724.6:c.3606C>T ENSP00000390717.2:p.Asp1202=
ENST00000439160.6:c.3609C>T ENSP00000406888.2:p.Asp1203=
ENST00000445265.6:c.3492C>T ENSP00000409944.2:p.Asp1164=
ENST00000504761.6:c.3720C>T ENSP00000421655.2:p.Asp1240=
ENST00000513346.5:c.3720C>T ENSP00000427484.1:p.Asp1240=
ENST00000514442.5:n.3770C>T
ENST00000515516.1:c.343-3252C>T ENSP00000426471.1:n.343-3252C>T
NM_000356.3:c.3489C>T NP_000347.2:p.Asp1163=
NM_001135243.1:c.3720C>T NP_001128715.1:p.Asp1240=
NM_001135244.1:c.3609C>T NP_001128716.1:p.Asp1203=
NM_001135245.1:c.3492C>T NP_001128717.1:p.Asp1164=
NM_001195141.1:c.3606C>T NP_001182070.1:p.Asp1202=
XM_005268502.2:c.3834C>T XP_005268559.1:p.Asp1278=
XM_005268503.2:c.3831C>T XP_005268560.1:p.Asp1277=
XM_005268504.2:c.3831C>T XP_005268561.1:p.Asp1277=
XM_005268505.2:c.3723C>T XP_005268562.1:p.Asp1241=
XM_005268506.2:c.3720C>T XP_005268563.1:p.Asp1240=
XM_005268507.2:c.3603C>T XP_005268564.1:p.Asp1201=
XM_011537678.1:c.3654C>T XP_011535980.1:p.Asp1218=
XR_427778.1:n.3838C>T
XR_427780.1:n.3727C>T
XM_005268502.4:c.3834C>T XP_005268559.1:p.Asp1278=
XM_005268503.4:c.3831C>T XP_005268560.1:p.Asp1277=
XM_005268504.4:c.3831C>T XP_005268561.1:p.Asp1277=
XM_005268505.4:c.3723C>T XP_005268562.1:p.Asp1241=
XM_005268506.4:c.3720C>T XP_005268563.1:p.Asp1240=
XM_005268507.4:c.3603C>T XP_005268564.1:p.Asp1201=
XM_011537678.3:c.3654C>T XP_011535980.1:p.Asp1218=
XM_017009792.2:c.3717C>T XP_016865281.1:p.Asp1239=
XM_017009793.2:c.3543C>T XP_016865282.1:p.Asp1181=
XM_017009794.2:c.3429C>T XP_016865283.1:p.Asp1143=
XR_427778.3:n.3840C>T
XR_427780.3:n.3729C>T
NM_000356.4:c.3489C>T NP_000347.2:p.Asp1163=
NM_001135244.2:c.3609C>T NP_001128716.1:p.Asp1203=
NM_001135245.2:c.3492C>T NP_001128717.1:p.Asp1164=
NM_001195141.2:c.3606C>T NP_001182070.1:p.Asp1202=
NM_001371623.1:c.3723C>T MANE Select NP_001358552.1:p.Asp1241=
NM_001135243.2:c.3720C>T NP_001128715.1:p.Asp1240=