Canonical Allele Identifier: CA3511441
Community Standard Title: NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg)
Gene: TCOF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.150391551A>G , CM000667.2:g.150391551A>G GRCh38
NC_000005.9:g.149771114A>G , CM000667.1:g.149771114A>G GRCh37
NC_000005.8:g.149751307A>G NCBI36
NG_011341.1:g.38913A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001371623.1:c.3191A>G MANE Select NP_001358552.1:p.Lys1064Arg
ENST00000643257.2:c.3191A>G MANE Select ENSP00000493815.1:p.Lys1064Arg
NM_000356.3:c.2960A>G NP_000347.2:p.Lys987Arg
NM_000356.4:c.2960A>G NP_000347.2:p.Lys987Arg
NM_001135243.1:c.3191A>G NP_001128715.1:p.Lys1064Arg
NM_001135243.2:c.3191A>G NP_001128715.1:p.Lys1064Arg
NM_001135244.1:c.3184-406A>G NP_001128716.1:n.3184-406A>G
NM_001135244.2:c.3184-406A>G NP_001128716.1:n.3184-406A>G
NM_001135245.1:c.2960A>G NP_001128717.1:p.Lys987Arg
NM_001135245.2:c.2960A>G NP_001128717.1:p.Lys987Arg
NM_001195141.1:c.3184-406A>G NP_001182070.1:n.3184-406A>G
NM_001195141.2:c.3184-406A>G NP_001182070.1:n.3184-406A>G
ENST00000323668.11:c.2960A>G ENSP00000325223.6:p.Lys987Arg
ENST00000377797.7:c.3191A>G ENSP00000367028.4:p.Lys1064Arg
ENST00000427724.6:c.3184-406A>G ENSP00000390717.2:n.3184-406A>G
ENST00000427724.7:c.3184-406A>G ENSP00000390717.3:n.3184-406A>G
ENST00000439160.6:c.3184-406A>G ENSP00000406888.2:n.3184-406A>G
ENST00000445265.6:c.2960A>G ENSP00000409944.2:p.Lys987Arg
ENST00000504761.6:c.3191A>G ENSP00000421655.2:p.Lys1064Arg
ENST00000506630.1:n.85A>G
ENST00000506767.1:c.625A>G
ENST00000513346.5:c.3295-406A>G ENSP00000427484.1:n.3295-406A>G
ENST00000514442.5:n.1991A>G
ENST00000515516.1:c.343-5192A>G ENSP00000426471.1:n.343-5192A>G
ENST00000650162.1:c.2953-406A>G ENSP00000497075.1:n.2953-406A>G
ENST00000674413.1:c.2590A>G
XM_005268502.2:c.3302A>G XP_005268559.1:p.Lys1101Arg
XM_005268502.4:c.3302A>G XP_005268559.1:p.Lys1101Arg
XM_005268503.2:c.3299A>G XP_005268560.1:p.Lys1100Arg
XM_005268503.4:c.3299A>G XP_005268560.1:p.Lys1100Arg
XM_005268504.2:c.3302A>G XP_005268561.1:p.Lys1101Arg
XM_005268504.4:c.3302A>G XP_005268561.1:p.Lys1101Arg
XM_005268505.2:c.3191A>G XP_005268562.1:p.Lys1064Arg
XM_005268505.4:c.3191A>G XP_005268562.1:p.Lys1064Arg
XM_005268506.2:c.3295-406A>G XP_005268563.1:n.3295-406A>G
XM_005268506.4:c.3295-406A>G XP_005268563.1:n.3295-406A>G
XM_005268507.2:c.3071A>G XP_005268564.1:p.Lys1024Arg
XM_005268507.4:c.3071A>G XP_005268564.1:p.Lys1024Arg
XM_011537678.1:c.3122A>G XP_011535980.1:p.Lys1041Arg
XM_011537678.3:c.3122A>G XP_011535980.1:p.Lys1041Arg
XM_017009792.2:c.3295-406A>G XP_016865281.1:n.3295-406A>G
XM_017009793.2:c.3011A>G XP_016865282.1:p.Lys1004Arg
XM_017009794.2:c.3004-406A>G XP_016865283.1:n.3004-406A>G
XR_427778.1:n.3306A>G
XR_427778.3:n.3308A>G
XR_427779.1:n.3299-406A>G
XR_427779.2:n.3301-406A>G
XR_427780.1:n.3195A>G
XR_427780.3:n.3197A>G