Canonical Allele Identifier: CA361739950

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149773101T>C (hg19) ; chr5:g.150393538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393538T>C , CM000667.2:g.150393538T>C	GRCh38
NC_000005.9:g.149773101T>C , CM000667.1:g.149773101T>C	GRCh37
NC_000005.8:g.149753294T>C	NCBI36
NG_011341.1:g.40900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3653T>C	ENSP00000390717.3:p.Leu1218Ser
ENST00000643257.2:c.3770T>C MANE Select	ENSP00000493815.1:p.Leu1257Ser
ENST00000650162.1:c.3425T>C	ENSP00000497075.1:p.Leu1142Ser
ENST00000674413.1:c.3169T>C
ENST00000323668.11:c.3536T>C	ENSP00000325223.6:p.Leu1179Ser
ENST00000377797.7:c.3767T>C	ENSP00000367028.4:p.Leu1256Ser
ENST00000427724.6:c.3653T>C	ENSP00000390717.2:p.Leu1218Ser
ENST00000439160.6:c.3656T>C	ENSP00000406888.2:p.Leu1219Ser
ENST00000445265.6:c.3539T>C	ENSP00000409944.2:p.Leu1180Ser
ENST00000504761.6:c.3767T>C	ENSP00000421655.2:p.Leu1256Ser
ENST00000513346.5:c.3767T>C	ENSP00000427484.1:p.Leu1256Ser
ENST00000514442.5:n.3817T>C
ENST00000515516.1:c.343-3205T>C	ENSP00000426471.1:n.343-3205T>C
NM_000356.3:c.3536T>C	NP_000347.2:p.Leu1179Ser
NM_001135243.1:c.3767T>C	NP_001128715.1:p.Leu1256Ser
NM_001135244.1:c.3656T>C	NP_001128716.1:p.Leu1219Ser
NM_001135245.1:c.3539T>C	NP_001128717.1:p.Leu1180Ser
NM_001195141.1:c.3653T>C	NP_001182070.1:p.Leu1218Ser
XM_005268502.2:c.3881T>C	XP_005268559.1:p.Leu1294Ser
XM_005268503.2:c.3878T>C	XP_005268560.1:p.Leu1293Ser
XM_005268504.2:c.3878T>C	XP_005268561.1:p.Leu1293Ser
XM_005268505.2:c.3770T>C	XP_005268562.1:p.Leu1257Ser
XM_005268506.2:c.3767T>C	XP_005268563.1:p.Leu1256Ser
XM_005268507.2:c.3650T>C	XP_005268564.1:p.Leu1217Ser
XM_011537678.1:c.3701T>C	XP_011535980.1:p.Leu1234Ser
XM_005268502.4:c.3881T>C	XP_005268559.1:p.Leu1294Ser
XM_005268503.4:c.3878T>C	XP_005268560.1:p.Leu1293Ser
XM_005268504.4:c.3878T>C	XP_005268561.1:p.Leu1293Ser
XM_005268505.4:c.3770T>C	XP_005268562.1:p.Leu1257Ser
XM_005268506.4:c.3767T>C	XP_005268563.1:p.Leu1256Ser
XM_005268507.4:c.3650T>C	XP_005268564.1:p.Leu1217Ser
XM_011537678.3:c.3701T>C	XP_011535980.1:p.Leu1234Ser
XM_017009792.2:c.3764T>C	XP_016865281.1:p.Leu1255Ser
XM_017009793.2:c.3590T>C	XP_016865282.1:p.Leu1197Ser
XM_017009794.2:c.3476T>C	XP_016865283.1:p.Leu1159Ser
XR_427778.3:n.3887T>C
XR_427780.3:n.3776T>C
NM_000356.4:c.3536T>C	NP_000347.2:p.Leu1179Ser
NM_001135244.2:c.3656T>C	NP_001128716.1:p.Leu1219Ser
NM_001135245.2:c.3539T>C	NP_001128717.1:p.Leu1180Ser
NM_001195141.2:c.3653T>C	NP_001182070.1:p.Leu1218Ser
NM_001371623.1:c.3770T>C MANE Select	NP_001358552.1:p.Leu1257Ser
NM_001135243.2:c.3767T>C	NP_001128715.1:p.Leu1256Ser