Canonical Allele Identifier: CA2710041942

Gene: TCOF1

Linked Data

• dbSNP Id: rs145548332

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393328T>C , CM000667.2:g.150393328T>C	GRCh38
NC_000005.9:g.149772891T>C , CM000667.1:g.149772891T>C	GRCh37
NC_000005.8:g.149753084T>C	NCBI36
NG_011341.1:g.40690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3487-44T>C	ENSP00000390717.3:n.3487-44T>C
ENST00000643257.2:c.3604-44T>C MANE Select	ENSP00000493815.1:n.3604-44T>C
ENST00000650162.1:c.3259-44T>C	ENSP00000497075.1:n.3259-44T>C
ENST00000674413.1:c.3003-44T>C
ENST00000323668.11:c.3370-44T>C	ENSP00000325223.6:n.3370-44T>C
ENST00000377797.7:c.3601-44T>C	ENSP00000367028.4:n.3601-44T>C
ENST00000427724.6:c.3487-44T>C	ENSP00000390717.2:n.3487-44T>C
ENST00000439160.6:c.3490-44T>C	ENSP00000406888.2:n.3490-44T>C
ENST00000445265.6:c.3373-44T>C	ENSP00000409944.2:n.3373-44T>C
ENST00000504761.6:c.3601-44T>C	ENSP00000421655.2:n.3601-44T>C
ENST00000513346.5:c.3601-44T>C	ENSP00000427484.1:n.3601-44T>C
ENST00000514442.5:n.3607T>C
ENST00000515516.1:c.343-3415T>C	ENSP00000426471.1:n.343-3415T>C
NM_000356.3:c.3370-44T>C	NP_000347.2:n.3370-44T>C
NM_001135243.1:c.3601-44T>C	NP_001128715.1:n.3601-44T>C
NM_001135244.1:c.3490-44T>C	NP_001128716.1:n.3490-44T>C
NM_001135245.1:c.3373-44T>C	NP_001128717.1:n.3373-44T>C
NM_001195141.1:c.3487-44T>C	NP_001182070.1:n.3487-44T>C
XM_005268502.2:c.3715-44T>C	XP_005268559.1:n.3715-44T>C
XM_005268503.2:c.3712-44T>C	XP_005268560.1:n.3712-44T>C
XM_005268504.2:c.3712-44T>C	XP_005268561.1:n.3712-44T>C
XM_005268505.2:c.3604-44T>C	XP_005268562.1:n.3604-44T>C
XM_005268506.2:c.3601-44T>C	XP_005268563.1:n.3601-44T>C
XM_005268507.2:c.3484-44T>C	XP_005268564.1:n.3484-44T>C
XM_011537678.1:c.3535-44T>C	XP_011535980.1:n.3535-44T>C
XR_427778.1:n.3719-44T>C
XR_427780.1:n.3608-44T>C
XM_005268502.4:c.3715-44T>C	XP_005268559.1:n.3715-44T>C
XM_005268503.4:c.3712-44T>C	XP_005268560.1:n.3712-44T>C
XM_005268504.4:c.3712-44T>C	XP_005268561.1:n.3712-44T>C
XM_005268505.4:c.3604-44T>C	XP_005268562.1:n.3604-44T>C
XM_005268506.4:c.3601-44T>C	XP_005268563.1:n.3601-44T>C
XM_005268507.4:c.3484-44T>C	XP_005268564.1:n.3484-44T>C
XM_011537678.3:c.3535-44T>C	XP_011535980.1:n.3535-44T>C
XM_017009792.2:c.3598-44T>C	XP_016865281.1:n.3598-44T>C
XM_017009793.2:c.3424-44T>C	XP_016865282.1:n.3424-44T>C
XM_017009794.2:c.3310-44T>C	XP_016865283.1:n.3310-44T>C
XR_427778.3:n.3721-44T>C
XR_427780.3:n.3610-44T>C
NM_000356.4:c.3370-44T>C	NP_000347.2:n.3370-44T>C
NM_001135244.2:c.3490-44T>C	NP_001128716.1:n.3490-44T>C
NM_001135245.2:c.3373-44T>C	NP_001128717.1:n.3373-44T>C
NM_001195141.2:c.3487-44T>C	NP_001182070.1:n.3487-44T>C
NM_001371623.1:c.3604-44T>C MANE Select	NP_001358552.1:n.3604-44T>C
NM_001135243.2:c.3601-44T>C	NP_001128715.1:n.3601-44T>C