Canonical Allele Identifier: CA252946

Gene: TCOF1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150388004C>T , CM000667.2:g.150388004C>T	GRCh38
NC_000005.9:g.149767567C>T , CM000667.1:g.149767567C>T	GRCh37
NC_000005.8:g.149747760C>T	NCBI36
NG_011341.1:g.35366C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.2962C>T	ENSP00000390717.3:p.Arg988Ter
ENST00000643257.2:c.2962C>T MANE Select	ENSP00000493815.1:p.Arg988Ter
ENST00000650162.1:c.2731C>T	ENSP00000497075.1:p.Arg911Ter
ENST00000674413.1:c.2361C>T
ENST00000323668.11:c.2731C>T	ENSP00000325223.6:p.Arg911Ter
ENST00000377797.7:c.2962C>T	ENSP00000367028.4:p.Arg988Ter
ENST00000427724.6:c.2962C>T	ENSP00000390717.2:p.Arg988Ter
ENST00000439160.6:c.2962C>T	ENSP00000406888.2:p.Arg988Ter
ENST00000445265.6:c.2731C>T	ENSP00000409944.2:p.Arg911Ter
ENST00000504761.6:c.2962C>T	ENSP00000421655.2:p.Arg988Ter
ENST00000506767.1:c.396C>T
ENST00000513346.5:c.3073C>T	ENSP00000427484.1:p.Arg1025Ter
ENST00000514442.5:n.1762C>T
ENST00000515516.1:c.343-8739C>T	ENSP00000426471.1:n.343-8739C>T
NM_000356.3:c.2731C>T	NP_000347.2:p.Arg911Ter
NM_001135243.1:c.2962C>T	NP_001128715.1:p.Arg988Ter
NM_001135244.1:c.2962C>T	NP_001128716.1:p.Arg988Ter
NM_001135245.1:c.2731C>T	NP_001128717.1:p.Arg911Ter
NM_001195141.1:c.2962C>T	NP_001182070.1:p.Arg988Ter
XM_005268502.2:c.3073C>T	XP_005268559.1:p.Arg1025Ter
XM_005268503.2:c.3070C>T	XP_005268560.1:p.Arg1024Ter
XM_005268504.2:c.3073C>T	XP_005268561.1:p.Arg1025Ter
XM_005268505.2:c.2962C>T	XP_005268562.1:p.Arg988Ter
XM_005268506.2:c.3073C>T	XP_005268563.1:p.Arg1025Ter
XM_005268507.2:c.2842C>T	XP_005268564.1:p.Arg948Ter
XM_011537678.1:c.2893C>T	XP_011535980.1:p.Arg965Ter
XR_427778.1:n.3077C>T
XR_427779.1:n.3077C>T
XR_427780.1:n.2966C>T
XM_005268502.4:c.3073C>T	XP_005268559.1:p.Arg1025Ter
XM_005268503.4:c.3070C>T	XP_005268560.1:p.Arg1024Ter
XM_005268504.4:c.3073C>T	XP_005268561.1:p.Arg1025Ter
XM_005268505.4:c.2962C>T	XP_005268562.1:p.Arg988Ter
XM_005268506.4:c.3073C>T	XP_005268563.1:p.Arg1025Ter
XM_005268507.4:c.2842C>T	XP_005268564.1:p.Arg948Ter
XM_011537678.3:c.2893C>T	XP_011535980.1:p.Arg965Ter
XM_017009792.2:c.3073C>T	XP_016865281.1:p.Arg1025Ter
XM_017009793.2:c.2782C>T	XP_016865282.1:p.Arg928Ter
XM_017009794.2:c.2782C>T	XP_016865283.1:p.Arg928Ter
XR_427778.3:n.3079C>T
XR_427779.2:n.3079C>T
XR_427780.3:n.2968C>T
NM_000356.4:c.2731C>T	NP_000347.2:p.Arg911Ter
NM_001135244.2:c.2962C>T	NP_001128716.1:p.Arg988Ter
NM_001135245.2:c.2731C>T	NP_001128717.1:p.Arg911Ter
NM_001195141.2:c.2962C>T	NP_001182070.1:p.Arg988Ter
NM_001371623.1:c.2962C>T MANE Select	NP_001358552.1:p.Arg988Ter
NM_001135243.2:c.2962C>T	NP_001128715.1:p.Arg988Ter