Canonical Allele Identifier: CA361740038

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393553G>C , CM000667.2:g.150393553G>C	GRCh38
NC_000005.9:g.149773116G>C , CM000667.1:g.149773116G>C	GRCh37
NC_000005.8:g.149753309G>C	NCBI36
NG_011341.1:g.40915G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.3784+1G>C MANE Select	NP_001358552.1:n.3784+1G>C
ENST00000643257.2:c.3784+1G>C MANE Select	ENSP00000493815.1:n.3784+1G>C
NM_000356.3:c.3550+1G>C	NP_000347.2:n.3550+1G>C
NM_000356.4:c.3550+1G>C	NP_000347.2:n.3550+1G>C
NM_001135243.1:c.3781+1G>C	NP_001128715.1:n.3781+1G>C
NM_001135243.2:c.3781+1G>C	NP_001128715.1:n.3781+1G>C
NM_001135244.1:c.3670+1G>C	NP_001128716.1:n.3670+1G>C
NM_001135244.2:c.3670+1G>C	NP_001128716.1:n.3670+1G>C
NM_001135245.1:c.3553+1G>C	NP_001128717.1:n.3553+1G>C
NM_001135245.2:c.3553+1G>C	NP_001128717.1:n.3553+1G>C
NM_001195141.1:c.3667+1G>C	NP_001182070.1:n.3667+1G>C
NM_001195141.2:c.3667+1G>C	NP_001182070.1:n.3667+1G>C
ENST00000323668.11:c.3550+1G>C	ENSP00000325223.6:n.3550+1G>C
ENST00000377797.7:c.3781+1G>C	ENSP00000367028.4:n.3781+1G>C
ENST00000427724.6:c.3667+1G>C	ENSP00000390717.2:n.3667+1G>C
ENST00000427724.7:c.3667+1G>C	ENSP00000390717.3:n.3667+1G>C
ENST00000439160.6:c.3670+1G>C	ENSP00000406888.2:n.3670+1G>C
ENST00000445265.6:c.3553+1G>C	ENSP00000409944.2:n.3553+1G>C
ENST00000504761.6:c.3781+1G>C	ENSP00000421655.2:n.3781+1G>C
ENST00000513346.5:c.3781+1G>C	ENSP00000427484.1:n.3781+1G>C
ENST00000514442.5:n.3832G>C
ENST00000515516.1:c.343-3190G>C	ENSP00000426471.1:n.343-3190G>C
ENST00000650162.1:c.3439+1G>C	ENSP00000497075.1:n.3439+1G>C
ENST00000674413.1:c.3183+1G>C
XM_005268502.2:c.3895+1G>C	XP_005268559.1:n.3895+1G>C
XM_005268502.4:c.3895+1G>C	XP_005268559.1:n.3895+1G>C
XM_005268503.2:c.3892+1G>C	XP_005268560.1:n.3892+1G>C
XM_005268503.4:c.3892+1G>C	XP_005268560.1:n.3892+1G>C
XM_005268504.2:c.3892+1G>C	XP_005268561.1:n.3892+1G>C
XM_005268504.4:c.3892+1G>C	XP_005268561.1:n.3892+1G>C
XM_005268505.2:c.3784+1G>C	XP_005268562.1:n.3784+1G>C
XM_005268505.4:c.3784+1G>C	XP_005268562.1:n.3784+1G>C
XM_005268506.2:c.3781+1G>C	XP_005268563.1:n.3781+1G>C
XM_005268506.4:c.3781+1G>C	XP_005268563.1:n.3781+1G>C
XM_005268507.2:c.3664+1G>C	XP_005268564.1:n.3664+1G>C
XM_005268507.4:c.3664+1G>C	XP_005268564.1:n.3664+1G>C
XM_011537678.1:c.3715+1G>C	XP_011535980.1:n.3715+1G>C
XM_011537678.3:c.3715+1G>C	XP_011535980.1:n.3715+1G>C
XM_017009792.2:c.3778+1G>C	XP_016865281.1:n.3778+1G>C
XM_017009793.2:c.3604+1G>C	XP_016865282.1:n.3604+1G>C
XM_017009794.2:c.3490+1G>C	XP_016865283.1:n.3490+1G>C
XR_427778.3:n.3901+1G>C
XR_427780.3:n.3790+1G>C