Canonical Allele Identifier: CA3511590

Gene: TCOF1

Linked Data

• dbSNP Id: rs758967054
• ExAC: 5:149773102 G / A
• gnomAD v2: 5-149773102-G-A
• gnomAD v4: 5-150393539-G-A
• COSMIC: COSM1064362 ; COSM1064363
• MyVariant Identifiers: chr5:g.149773102G>A (hg19) ; chr5:g.150393539G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393539G>A , CM000667.2:g.150393539G>A	GRCh38
NC_000005.9:g.149773102G>A , CM000667.1:g.149773102G>A	GRCh37
NC_000005.8:g.149753295G>A	NCBI36
NG_011341.1:g.40901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000427724.7:c.3654G>A	ENSP00000390717.3:p.Leu1218=
ENST00000643257.2:c.3771G>A MANE Select	ENSP00000493815.1:p.Leu1257=
ENST00000650162.1:c.3426G>A	ENSP00000497075.1:p.Leu1142=
ENST00000674413.1:c.3170G>A
ENST00000323668.11:c.3537G>A	ENSP00000325223.6:p.Leu1179=
ENST00000377797.7:c.3768G>A	ENSP00000367028.4:p.Leu1256=
ENST00000427724.6:c.3654G>A	ENSP00000390717.2:p.Leu1218=
ENST00000439160.6:c.3657G>A	ENSP00000406888.2:p.Leu1219=
ENST00000445265.6:c.3540G>A	ENSP00000409944.2:p.Leu1180=
ENST00000504761.6:c.3768G>A	ENSP00000421655.2:p.Leu1256=
ENST00000513346.5:c.3768G>A	ENSP00000427484.1:p.Leu1256=
ENST00000514442.5:n.3818G>A
ENST00000515516.1:c.343-3204G>A	ENSP00000426471.1:n.343-3204G>A
NM_000356.3:c.3537G>A	NP_000347.2:p.Leu1179=
NM_001135243.1:c.3768G>A	NP_001128715.1:p.Leu1256=
NM_001135244.1:c.3657G>A	NP_001128716.1:p.Leu1219=
NM_001135245.1:c.3540G>A	NP_001128717.1:p.Leu1180=
NM_001195141.1:c.3654G>A	NP_001182070.1:p.Leu1218=
XM_005268502.2:c.3882G>A	XP_005268559.1:p.Leu1294=
XM_005268503.2:c.3879G>A	XP_005268560.1:p.Leu1293=
XM_005268504.2:c.3879G>A	XP_005268561.1:p.Leu1293=
XM_005268505.2:c.3771G>A	XP_005268562.1:p.Leu1257=
XM_005268506.2:c.3768G>A	XP_005268563.1:p.Leu1256=
XM_005268507.2:c.3651G>A	XP_005268564.1:p.Leu1217=
XM_011537678.1:c.3702G>A	XP_011535980.1:p.Leu1234=
XM_005268502.4:c.3882G>A	XP_005268559.1:p.Leu1294=
XM_005268503.4:c.3879G>A	XP_005268560.1:p.Leu1293=
XM_005268504.4:c.3879G>A	XP_005268561.1:p.Leu1293=
XM_005268505.4:c.3771G>A	XP_005268562.1:p.Leu1257=
XM_005268506.4:c.3768G>A	XP_005268563.1:p.Leu1256=
XM_005268507.4:c.3651G>A	XP_005268564.1:p.Leu1217=
XM_011537678.3:c.3702G>A	XP_011535980.1:p.Leu1234=
XM_017009792.2:c.3765G>A	XP_016865281.1:p.Leu1255=
XM_017009793.2:c.3591G>A	XP_016865282.1:p.Leu1197=
XM_017009794.2:c.3477G>A	XP_016865283.1:p.Leu1159=
XR_427778.3:n.3888G>A
XR_427780.3:n.3777G>A
NM_000356.4:c.3537G>A	NP_000347.2:p.Leu1179=
NM_001135244.2:c.3657G>A	NP_001128716.1:p.Leu1219=
NM_001135245.2:c.3540G>A	NP_001128717.1:p.Leu1180=
NM_001195141.2:c.3654G>A	NP_001182070.1:p.Leu1218=
NM_001371623.1:c.3771G>A MANE Select	NP_001358552.1:p.Leu1257=
NM_001135243.2:c.3768G>A	NP_001128715.1:p.Leu1256=