Canonical Allele Identifier: CA447157883

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772979T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393416T>C , CM000667.2:g.150393416T>C	GRCh38
NC_000005.9:g.149772979T>C , CM000667.1:g.149772979T>C	GRCh37
NC_000005.8:g.149753172T>C	NCBI36
NG_011341.1:g.40778T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3531T>C	ENSP00000390717.3:p.Asn1177=
ENST00000643257.2:c.3648T>C MANE Select	ENSP00000493815.1:p.Asn1216=
ENST00000650162.1:c.3303T>C	ENSP00000497075.1:p.Asn1101=
ENST00000674413.1:c.3047T>C
ENST00000323668.11:c.3414T>C	ENSP00000325223.6:p.Asn1138=
ENST00000377797.7:c.3645T>C	ENSP00000367028.4:p.Asn1215=
ENST00000427724.6:c.3531T>C	ENSP00000390717.2:p.Asn1177=
ENST00000439160.6:c.3534T>C	ENSP00000406888.2:p.Asn1178=
ENST00000445265.6:c.3417T>C	ENSP00000409944.2:p.Asn1139=
ENST00000504761.6:c.3645T>C	ENSP00000421655.2:p.Asn1215=
ENST00000513346.5:c.3645T>C	ENSP00000427484.1:p.Asn1215=
ENST00000514442.5:n.3695T>C
ENST00000515516.1:c.343-3327T>C	ENSP00000426471.1:n.343-3327T>C
NM_000356.3:c.3414T>C	NP_000347.2:p.Asn1138=
NM_001135243.1:c.3645T>C	NP_001128715.1:p.Asn1215=
NM_001135244.1:c.3534T>C	NP_001128716.1:p.Asn1178=
NM_001135245.1:c.3417T>C	NP_001128717.1:p.Asn1139=
NM_001195141.1:c.3531T>C	NP_001182070.1:p.Asn1177=
XM_005268502.2:c.3759T>C	XP_005268559.1:p.Asn1253=
XM_005268503.2:c.3756T>C	XP_005268560.1:p.Asn1252=
XM_005268504.2:c.3756T>C	XP_005268561.1:p.Asn1252=
XM_005268505.2:c.3648T>C	XP_005268562.1:p.Asn1216=
XM_005268506.2:c.3645T>C	XP_005268563.1:p.Asn1215=
XM_005268507.2:c.3528T>C	XP_005268564.1:p.Asn1176=
XM_011537678.1:c.3579T>C	XP_011535980.1:p.Asn1193=
XR_427778.1:n.3763T>C
XR_427780.1:n.3652T>C
XM_005268502.4:c.3759T>C	XP_005268559.1:p.Asn1253=
XM_005268503.4:c.3756T>C	XP_005268560.1:p.Asn1252=
XM_005268504.4:c.3756T>C	XP_005268561.1:p.Asn1252=
XM_005268505.4:c.3648T>C	XP_005268562.1:p.Asn1216=
XM_005268506.4:c.3645T>C	XP_005268563.1:p.Asn1215=
XM_005268507.4:c.3528T>C	XP_005268564.1:p.Asn1176=
XM_011537678.3:c.3579T>C	XP_011535980.1:p.Asn1193=
XM_017009792.2:c.3642T>C	XP_016865281.1:p.Asn1214=
XM_017009793.2:c.3468T>C	XP_016865282.1:p.Asn1156=
XM_017009794.2:c.3354T>C	XP_016865283.1:p.Asn1118=
XR_427778.3:n.3765T>C
XR_427780.3:n.3654T>C
NM_000356.4:c.3414T>C	NP_000347.2:p.Asn1138=
NM_001135244.2:c.3534T>C	NP_001128716.1:p.Asn1178=
NM_001135245.2:c.3417T>C	NP_001128717.1:p.Asn1139=
NM_001195141.2:c.3531T>C	NP_001182070.1:p.Asn1177=
NM_001371623.1:c.3648T>C MANE Select	NP_001358552.1:p.Asn1216=
NM_001135243.2:c.3645T>C	NP_001128715.1:p.Asn1215=