Canonical Allele Identifier: CA361739249

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772983C>A (hg19) ; chr5:g.150393420C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393420C>A , CM000667.2:g.150393420C>A	GRCh38
NC_000005.9:g.149772983C>A , CM000667.1:g.149772983C>A	GRCh37
NC_000005.8:g.149753176C>A	NCBI36
NG_011341.1:g.40782C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3535C>A	ENSP00000390717.3:p.Gln1179Lys
ENST00000643257.2:c.3652C>A MANE Select	ENSP00000493815.1:p.Gln1218Lys
ENST00000650162.1:c.3307C>A	ENSP00000497075.1:p.Gln1103Lys
ENST00000674413.1:c.3051C>A
ENST00000323668.11:c.3418C>A	ENSP00000325223.6:p.Gln1140Lys
ENST00000377797.7:c.3649C>A	ENSP00000367028.4:p.Gln1217Lys
ENST00000427724.6:c.3535C>A	ENSP00000390717.2:p.Gln1179Lys
ENST00000439160.6:c.3538C>A	ENSP00000406888.2:p.Gln1180Lys
ENST00000445265.6:c.3421C>A	ENSP00000409944.2:p.Gln1141Lys
ENST00000504761.6:c.3649C>A	ENSP00000421655.2:p.Gln1217Lys
ENST00000513346.5:c.3649C>A	ENSP00000427484.1:p.Gln1217Lys
ENST00000514442.5:n.3699C>A
ENST00000515516.1:c.343-3323C>A	ENSP00000426471.1:n.343-3323C>A
NM_000356.3:c.3418C>A	NP_000347.2:p.Gln1140Lys
NM_001135243.1:c.3649C>A	NP_001128715.1:p.Gln1217Lys
NM_001135244.1:c.3538C>A	NP_001128716.1:p.Gln1180Lys
NM_001135245.1:c.3421C>A	NP_001128717.1:p.Gln1141Lys
NM_001195141.1:c.3535C>A	NP_001182070.1:p.Gln1179Lys
XM_005268502.2:c.3763C>A	XP_005268559.1:p.Gln1255Lys
XM_005268503.2:c.3760C>A	XP_005268560.1:p.Gln1254Lys
XM_005268504.2:c.3760C>A	XP_005268561.1:p.Gln1254Lys
XM_005268505.2:c.3652C>A	XP_005268562.1:p.Gln1218Lys
XM_005268506.2:c.3649C>A	XP_005268563.1:p.Gln1217Lys
XM_005268507.2:c.3532C>A	XP_005268564.1:p.Gln1178Lys
XM_011537678.1:c.3583C>A	XP_011535980.1:p.Gln1195Lys
XR_427778.1:n.3767C>A
XR_427780.1:n.3656C>A
XM_005268502.4:c.3763C>A	XP_005268559.1:p.Gln1255Lys
XM_005268503.4:c.3760C>A	XP_005268560.1:p.Gln1254Lys
XM_005268504.4:c.3760C>A	XP_005268561.1:p.Gln1254Lys
XM_005268505.4:c.3652C>A	XP_005268562.1:p.Gln1218Lys
XM_005268506.4:c.3649C>A	XP_005268563.1:p.Gln1217Lys
XM_005268507.4:c.3532C>A	XP_005268564.1:p.Gln1178Lys
XM_011537678.3:c.3583C>A	XP_011535980.1:p.Gln1195Lys
XM_017009792.2:c.3646C>A	XP_016865281.1:p.Gln1216Lys
XM_017009793.2:c.3472C>A	XP_016865282.1:p.Gln1158Lys
XM_017009794.2:c.3358C>A	XP_016865283.1:p.Gln1120Lys
XR_427778.3:n.3769C>A
XR_427780.3:n.3658C>A
NM_000356.4:c.3418C>A	NP_000347.2:p.Gln1140Lys
NM_001135244.2:c.3538C>A	NP_001128716.1:p.Gln1180Lys
NM_001135245.2:c.3421C>A	NP_001128717.1:p.Gln1141Lys
NM_001195141.2:c.3535C>A	NP_001182070.1:p.Gln1179Lys
NM_001371623.1:c.3652C>A MANE Select	NP_001358552.1:p.Gln1218Lys
NM_001135243.2:c.3649C>A	NP_001128715.1:p.Gln1217Lys