Canonical Allele Identifier: CA3511402
Community Standard Title: NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile)
Gene: TCOF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150389893G>T , CM000667.2:g.150389893G>T GRCh38
NC_000005.9:g.149769456G>T , CM000667.1:g.149769456G>T GRCh37
NC_000005.8:g.149749649G>T NCBI36
NG_011341.1:g.37255G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001371623.1:c.3053G>T MANE Select NP_001358552.1:p.Arg1018Ile
ENST00000643257.2:c.3053G>T MANE Select ENSP00000493815.1:p.Arg1018Ile
NM_000356.3:c.2822G>T NP_000347.2:p.Arg941Ile
NM_000356.4:c.2822G>T NP_000347.2:p.Arg941Ile
NM_001135243.1:c.3053G>T NP_001128715.1:p.Arg1018Ile
NM_001135243.2:c.3053G>T NP_001128715.1:p.Arg1018Ile
NM_001135244.1:c.3053G>T NP_001128716.1:p.Arg1018Ile
NM_001135244.2:c.3053G>T NP_001128716.1:p.Arg1018Ile
NM_001135245.1:c.2822G>T NP_001128717.1:p.Arg941Ile
NM_001135245.2:c.2822G>T NP_001128717.1:p.Arg941Ile
NM_001195141.1:c.3053G>T NP_001182070.1:p.Arg1018Ile
NM_001195141.2:c.3053G>T NP_001182070.1:p.Arg1018Ile
ENST00000323668.11:c.2822G>T ENSP00000325223.6:p.Arg941Ile
ENST00000377797.7:c.3053G>T ENSP00000367028.4:p.Arg1018Ile
ENST00000427724.6:c.3053G>T ENSP00000390717.2:p.Arg1018Ile
ENST00000427724.7:c.3053G>T ENSP00000390717.3:p.Arg1018Ile
ENST00000439160.6:c.3053G>T ENSP00000406888.2:p.Arg1018Ile
ENST00000445265.6:c.2822G>T ENSP00000409944.2:p.Arg941Ile
ENST00000504761.6:c.3053G>T ENSP00000421655.2:p.Arg1018Ile
ENST00000506767.1:c.487G>T
ENST00000513346.5:c.3164G>T ENSP00000427484.1:p.Arg1055Ile
ENST00000514442.5:n.1853G>T
ENST00000515516.1:c.343-6850G>T ENSP00000426471.1:n.343-6850G>T
ENST00000650162.1:c.2822G>T ENSP00000497075.1:p.Arg941Ile
ENST00000674413.1:c.2452G>T
XM_005268502.2:c.3164G>T XP_005268559.1:p.Arg1055Ile
XM_005268502.4:c.3164G>T XP_005268559.1:p.Arg1055Ile
XM_005268503.2:c.3161G>T XP_005268560.1:p.Arg1054Ile
XM_005268503.4:c.3161G>T XP_005268560.1:p.Arg1054Ile
XM_005268504.2:c.3164G>T XP_005268561.1:p.Arg1055Ile
XM_005268504.4:c.3164G>T XP_005268561.1:p.Arg1055Ile
XM_005268505.2:c.3053G>T XP_005268562.1:p.Arg1018Ile
XM_005268505.4:c.3053G>T XP_005268562.1:p.Arg1018Ile
XM_005268506.2:c.3164G>T XP_005268563.1:p.Arg1055Ile
XM_005268506.4:c.3164G>T XP_005268563.1:p.Arg1055Ile
XM_005268507.2:c.2933G>T XP_005268564.1:p.Arg978Ile
XM_005268507.4:c.2933G>T XP_005268564.1:p.Arg978Ile
XM_011537678.1:c.2984G>T XP_011535980.1:p.Arg995Ile
XM_011537678.3:c.2984G>T XP_011535980.1:p.Arg995Ile
XM_017009792.2:c.3164G>T XP_016865281.1:p.Arg1055Ile
XM_017009793.2:c.2873G>T XP_016865282.1:p.Arg958Ile
XM_017009794.2:c.2873G>T XP_016865283.1:p.Arg958Ile
XR_427778.1:n.3168G>T
XR_427778.3:n.3170G>T
XR_427779.1:n.3168G>T
XR_427779.2:n.3170G>T
XR_427780.1:n.3057G>T
XR_427780.3:n.3059G>T