Canonical Allele Identifier: CA3511557

Gene: TCOF1

Linked Data

• dbSNP Id: rs374937664
• ExAC: 5:149772897 G / A
• gnomAD v2: 5-149772897-G-A
• gnomAD v3: 5-150393334-G-A
• gnomAD v4: 5-150393334-G-A
• MyVariant Identifiers: chr5:g.149772897G>A (hg19) ; chr5:g.150393334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393334G>A , CM000667.2:g.150393334G>A	GRCh38
NC_000005.9:g.149772897G>A , CM000667.1:g.149772897G>A	GRCh37
NC_000005.8:g.149753090G>A	NCBI36
NG_011341.1:g.40696G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3487-38G>A	ENSP00000390717.3:n.3487-38G>A
ENST00000643257.2:c.3604-38G>A MANE Select	ENSP00000493815.1:n.3604-38G>A
ENST00000650162.1:c.3259-38G>A	ENSP00000497075.1:n.3259-38G>A
ENST00000674413.1:c.3003-38G>A
ENST00000323668.11:c.3370-38G>A	ENSP00000325223.6:n.3370-38G>A
ENST00000377797.7:c.3601-38G>A	ENSP00000367028.4:n.3601-38G>A
ENST00000427724.6:c.3487-38G>A	ENSP00000390717.2:n.3487-38G>A
ENST00000439160.6:c.3490-38G>A	ENSP00000406888.2:n.3490-38G>A
ENST00000445265.6:c.3373-38G>A	ENSP00000409944.2:n.3373-38G>A
ENST00000504761.6:c.3601-38G>A	ENSP00000421655.2:n.3601-38G>A
ENST00000513346.5:c.3601-38G>A	ENSP00000427484.1:n.3601-38G>A
ENST00000514442.5:n.3613G>A
ENST00000515516.1:c.343-3409G>A	ENSP00000426471.1:n.343-3409G>A
NM_000356.3:c.3370-38G>A	NP_000347.2:n.3370-38G>A
NM_001135243.1:c.3601-38G>A	NP_001128715.1:n.3601-38G>A
NM_001135244.1:c.3490-38G>A	NP_001128716.1:n.3490-38G>A
NM_001135245.1:c.3373-38G>A	NP_001128717.1:n.3373-38G>A
NM_001195141.1:c.3487-38G>A	NP_001182070.1:n.3487-38G>A
XM_005268502.2:c.3715-38G>A	XP_005268559.1:n.3715-38G>A
XM_005268503.2:c.3712-38G>A	XP_005268560.1:n.3712-38G>A
XM_005268504.2:c.3712-38G>A	XP_005268561.1:n.3712-38G>A
XM_005268505.2:c.3604-38G>A	XP_005268562.1:n.3604-38G>A
XM_005268506.2:c.3601-38G>A	XP_005268563.1:n.3601-38G>A
XM_005268507.2:c.3484-38G>A	XP_005268564.1:n.3484-38G>A
XM_011537678.1:c.3535-38G>A	XP_011535980.1:n.3535-38G>A
XR_427778.1:n.3719-38G>A
XR_427780.1:n.3608-38G>A
XM_005268502.4:c.3715-38G>A	XP_005268559.1:n.3715-38G>A
XM_005268503.4:c.3712-38G>A	XP_005268560.1:n.3712-38G>A
XM_005268504.4:c.3712-38G>A	XP_005268561.1:n.3712-38G>A
XM_005268505.4:c.3604-38G>A	XP_005268562.1:n.3604-38G>A
XM_005268506.4:c.3601-38G>A	XP_005268563.1:n.3601-38G>A
XM_005268507.4:c.3484-38G>A	XP_005268564.1:n.3484-38G>A
XM_011537678.3:c.3535-38G>A	XP_011535980.1:n.3535-38G>A
XM_017009792.2:c.3598-38G>A	XP_016865281.1:n.3598-38G>A
XM_017009793.2:c.3424-38G>A	XP_016865282.1:n.3424-38G>A
XM_017009794.2:c.3310-38G>A	XP_016865283.1:n.3310-38G>A
XR_427778.3:n.3721-38G>A
XR_427780.3:n.3610-38G>A
NM_000356.4:c.3370-38G>A	NP_000347.2:n.3370-38G>A
NM_001135244.2:c.3490-38G>A	NP_001128716.1:n.3490-38G>A
NM_001135245.2:c.3373-38G>A	NP_001128717.1:n.3373-38G>A
NM_001195141.2:c.3487-38G>A	NP_001182070.1:n.3487-38G>A
NM_001371623.1:c.3604-38G>A MANE Select	NP_001358552.1:n.3604-38G>A
NM_001135243.2:c.3601-38G>A	NP_001128715.1:n.3601-38G>A