Canonical Allele Identifier: CA361738894

Gene: TCOF1

Linked Data

• dbSNP Id: rs1358767039
• gnomAD v4: 5-150393385-G-A
• MyVariant Identifiers: chr5:g.149772948G>A (hg19) ; chr5:g.150393385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393385G>A , CM000667.2:g.150393385G>A	GRCh38
NC_000005.9:g.149772948G>A , CM000667.1:g.149772948G>A	GRCh37
NC_000005.8:g.149753141G>A	NCBI36
NG_011341.1:g.40747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3500G>A	ENSP00000390717.3:p.Gly1167Asp
ENST00000643257.2:c.3617G>A MANE Select	ENSP00000493815.1:p.Gly1206Asp
ENST00000650162.1:c.3272G>A	ENSP00000497075.1:p.Gly1091Asp
ENST00000674413.1:c.3016G>A
ENST00000323668.11:c.3383G>A	ENSP00000325223.6:p.Gly1128Asp
ENST00000377797.7:c.3614G>A	ENSP00000367028.4:p.Gly1205Asp
ENST00000427724.6:c.3500G>A	ENSP00000390717.2:p.Gly1167Asp
ENST00000439160.6:c.3503G>A	ENSP00000406888.2:p.Gly1168Asp
ENST00000445265.6:c.3386G>A	ENSP00000409944.2:p.Gly1129Asp
ENST00000504761.6:c.3614G>A	ENSP00000421655.2:p.Gly1205Asp
ENST00000513346.5:c.3614G>A	ENSP00000427484.1:p.Gly1205Asp
ENST00000514442.5:n.3664G>A
ENST00000515516.1:c.343-3358G>A	ENSP00000426471.1:n.343-3358G>A
NM_000356.3:c.3383G>A	NP_000347.2:p.Gly1128Asp
NM_001135243.1:c.3614G>A	NP_001128715.1:p.Gly1205Asp
NM_001135244.1:c.3503G>A	NP_001128716.1:p.Gly1168Asp
NM_001135245.1:c.3386G>A	NP_001128717.1:p.Gly1129Asp
NM_001195141.1:c.3500G>A	NP_001182070.1:p.Gly1167Asp
XM_005268502.2:c.3728G>A	XP_005268559.1:p.Gly1243Asp
XM_005268503.2:c.3725G>A	XP_005268560.1:p.Gly1242Asp
XM_005268504.2:c.3725G>A	XP_005268561.1:p.Gly1242Asp
XM_005268505.2:c.3617G>A	XP_005268562.1:p.Gly1206Asp
XM_005268506.2:c.3614G>A	XP_005268563.1:p.Gly1205Asp
XM_005268507.2:c.3497G>A	XP_005268564.1:p.Gly1166Asp
XM_011537678.1:c.3548G>A	XP_011535980.1:p.Gly1183Asp
XR_427778.1:n.3732G>A
XR_427780.1:n.3621G>A
XM_005268502.4:c.3728G>A	XP_005268559.1:p.Gly1243Asp
XM_005268503.4:c.3725G>A	XP_005268560.1:p.Gly1242Asp
XM_005268504.4:c.3725G>A	XP_005268561.1:p.Gly1242Asp
XM_005268505.4:c.3617G>A	XP_005268562.1:p.Gly1206Asp
XM_005268506.4:c.3614G>A	XP_005268563.1:p.Gly1205Asp
XM_005268507.4:c.3497G>A	XP_005268564.1:p.Gly1166Asp
XM_011537678.3:c.3548G>A	XP_011535980.1:p.Gly1183Asp
XM_017009792.2:c.3611G>A	XP_016865281.1:p.Gly1204Asp
XM_017009793.2:c.3437G>A	XP_016865282.1:p.Gly1146Asp
XM_017009794.2:c.3323G>A	XP_016865283.1:p.Gly1108Asp
XR_427778.3:n.3734G>A
XR_427780.3:n.3623G>A
NM_000356.4:c.3383G>A	NP_000347.2:p.Gly1128Asp
NM_001135244.2:c.3503G>A	NP_001128716.1:p.Gly1168Asp
NM_001135245.2:c.3386G>A	NP_001128717.1:p.Gly1129Asp
NM_001195141.2:c.3500G>A	NP_001182070.1:p.Gly1167Asp
NM_001371623.1:c.3617G>A MANE Select	NP_001358552.1:p.Gly1206Asp
NM_001135243.2:c.3614G>A	NP_001128715.1:p.Gly1205Asp