Canonical Allele Identifier: CA361739576

Gene: TCOF1

Linked Data

• dbSNP Id: rs1767836688
• gnomAD v4: 5-150393471-A-C
• MyVariant Identifiers: chr5:g.149773034A>C (hg19) ; chr5:g.150393471A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393471A>C , CM000667.2:g.150393471A>C	GRCh38
NC_000005.9:g.149773034A>C , CM000667.1:g.149773034A>C	GRCh37
NC_000005.8:g.149753227A>C	NCBI36
NG_011341.1:g.40833A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3586A>C	ENSP00000390717.3:p.Thr1196Pro
ENST00000643257.2:c.3703A>C MANE Select	ENSP00000493815.1:p.Thr1235Pro
ENST00000650162.1:c.3358A>C	ENSP00000497075.1:p.Thr1120Pro
ENST00000674413.1:c.3102A>C
ENST00000323668.11:c.3469A>C	ENSP00000325223.6:p.Thr1157Pro
ENST00000377797.7:c.3700A>C	ENSP00000367028.4:p.Thr1234Pro
ENST00000427724.6:c.3586A>C	ENSP00000390717.2:p.Thr1196Pro
ENST00000439160.6:c.3589A>C	ENSP00000406888.2:p.Thr1197Pro
ENST00000445265.6:c.3472A>C	ENSP00000409944.2:p.Thr1158Pro
ENST00000504761.6:c.3700A>C	ENSP00000421655.2:p.Thr1234Pro
ENST00000513346.5:c.3700A>C	ENSP00000427484.1:p.Thr1234Pro
ENST00000514442.5:n.3750A>C
ENST00000515516.1:c.343-3272A>C	ENSP00000426471.1:n.343-3272A>C
NM_000356.3:c.3469A>C	NP_000347.2:p.Thr1157Pro
NM_001135243.1:c.3700A>C	NP_001128715.1:p.Thr1234Pro
NM_001135244.1:c.3589A>C	NP_001128716.1:p.Thr1197Pro
NM_001135245.1:c.3472A>C	NP_001128717.1:p.Thr1158Pro
NM_001195141.1:c.3586A>C	NP_001182070.1:p.Thr1196Pro
XM_005268502.2:c.3814A>C	XP_005268559.1:p.Thr1272Pro
XM_005268503.2:c.3811A>C	XP_005268560.1:p.Thr1271Pro
XM_005268504.2:c.3811A>C	XP_005268561.1:p.Thr1271Pro
XM_005268505.2:c.3703A>C	XP_005268562.1:p.Thr1235Pro
XM_005268506.2:c.3700A>C	XP_005268563.1:p.Thr1234Pro
XM_005268507.2:c.3583A>C	XP_005268564.1:p.Thr1195Pro
XM_011537678.1:c.3634A>C	XP_011535980.1:p.Thr1212Pro
XR_427778.1:n.3818A>C
XR_427780.1:n.3707A>C
XM_005268502.4:c.3814A>C	XP_005268559.1:p.Thr1272Pro
XM_005268503.4:c.3811A>C	XP_005268560.1:p.Thr1271Pro
XM_005268504.4:c.3811A>C	XP_005268561.1:p.Thr1271Pro
XM_005268505.4:c.3703A>C	XP_005268562.1:p.Thr1235Pro
XM_005268506.4:c.3700A>C	XP_005268563.1:p.Thr1234Pro
XM_005268507.4:c.3583A>C	XP_005268564.1:p.Thr1195Pro
XM_011537678.3:c.3634A>C	XP_011535980.1:p.Thr1212Pro
XM_017009792.2:c.3697A>C	XP_016865281.1:p.Thr1233Pro
XM_017009793.2:c.3523A>C	XP_016865282.1:p.Thr1175Pro
XM_017009794.2:c.3409A>C	XP_016865283.1:p.Thr1137Pro
XR_427778.3:n.3820A>C
XR_427780.3:n.3709A>C
NM_000356.4:c.3469A>C	NP_000347.2:p.Thr1157Pro
NM_001135244.2:c.3589A>C	NP_001128716.1:p.Thr1197Pro
NM_001135245.2:c.3472A>C	NP_001128717.1:p.Thr1158Pro
NM_001195141.2:c.3586A>C	NP_001182070.1:p.Thr1196Pro
NM_001371623.1:c.3703A>C MANE Select	NP_001358552.1:p.Thr1235Pro
NM_001135243.2:c.3700A>C	NP_001128715.1:p.Thr1234Pro