Canonical Allele Identifier: CA361739968

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149773103T>G (hg19) ; chr5:g.150393540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393540T>G , CM000667.2:g.150393540T>G	GRCh38
NC_000005.9:g.149773103T>G , CM000667.1:g.149773103T>G	GRCh37
NC_000005.8:g.149753296T>G	NCBI36
NG_011341.1:g.40902T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3655T>G	ENSP00000390717.3:p.Ser1219Ala
ENST00000643257.2:c.3772T>G MANE Select	ENSP00000493815.1:p.Ser1258Ala
ENST00000650162.1:c.3427T>G	ENSP00000497075.1:p.Ser1143Ala
ENST00000674413.1:c.3171T>G
ENST00000323668.11:c.3538T>G	ENSP00000325223.6:p.Ser1180Ala
ENST00000377797.7:c.3769T>G	ENSP00000367028.4:p.Ser1257Ala
ENST00000427724.6:c.3655T>G	ENSP00000390717.2:p.Ser1219Ala
ENST00000439160.6:c.3658T>G	ENSP00000406888.2:p.Ser1220Ala
ENST00000445265.6:c.3541T>G	ENSP00000409944.2:p.Ser1181Ala
ENST00000504761.6:c.3769T>G	ENSP00000421655.2:p.Ser1257Ala
ENST00000513346.5:c.3769T>G	ENSP00000427484.1:p.Ser1257Ala
ENST00000514442.5:n.3819T>G
ENST00000515516.1:c.343-3203T>G	ENSP00000426471.1:n.343-3203T>G
NM_000356.3:c.3538T>G	NP_000347.2:p.Ser1180Ala
NM_001135243.1:c.3769T>G	NP_001128715.1:p.Ser1257Ala
NM_001135244.1:c.3658T>G	NP_001128716.1:p.Ser1220Ala
NM_001135245.1:c.3541T>G	NP_001128717.1:p.Ser1181Ala
NM_001195141.1:c.3655T>G	NP_001182070.1:p.Ser1219Ala
XM_005268502.2:c.3883T>G	XP_005268559.1:p.Ser1295Ala
XM_005268503.2:c.3880T>G	XP_005268560.1:p.Ser1294Ala
XM_005268504.2:c.3880T>G	XP_005268561.1:p.Ser1294Ala
XM_005268505.2:c.3772T>G	XP_005268562.1:p.Ser1258Ala
XM_005268506.2:c.3769T>G	XP_005268563.1:p.Ser1257Ala
XM_005268507.2:c.3652T>G	XP_005268564.1:p.Ser1218Ala
XM_011537678.1:c.3703T>G	XP_011535980.1:p.Ser1235Ala
XM_005268502.4:c.3883T>G	XP_005268559.1:p.Ser1295Ala
XM_005268503.4:c.3880T>G	XP_005268560.1:p.Ser1294Ala
XM_005268504.4:c.3880T>G	XP_005268561.1:p.Ser1294Ala
XM_005268505.4:c.3772T>G	XP_005268562.1:p.Ser1258Ala
XM_005268506.4:c.3769T>G	XP_005268563.1:p.Ser1257Ala
XM_005268507.4:c.3652T>G	XP_005268564.1:p.Ser1218Ala
XM_011537678.3:c.3703T>G	XP_011535980.1:p.Ser1235Ala
XM_017009792.2:c.3766T>G	XP_016865281.1:p.Ser1256Ala
XM_017009793.2:c.3592T>G	XP_016865282.1:p.Ser1198Ala
XM_017009794.2:c.3478T>G	XP_016865283.1:p.Ser1160Ala
XR_427778.3:n.3889T>G
XR_427780.3:n.3778T>G
NM_000356.4:c.3538T>G	NP_000347.2:p.Ser1180Ala
NM_001135244.2:c.3658T>G	NP_001128716.1:p.Ser1220Ala
NM_001135245.2:c.3541T>G	NP_001128717.1:p.Ser1181Ala
NM_001195141.2:c.3655T>G	NP_001182070.1:p.Ser1219Ala
NM_001371623.1:c.3772T>G MANE Select	NP_001358552.1:p.Ser1258Ala
NM_001135243.2:c.3769T>G	NP_001128715.1:p.Ser1257Ala