Canonical Allele Identifier: CA361739585

Gene: TCOF1

Linked Data

• ClinVar Variation Id: 2277644
• ClinVar RCV Id: RCV002818078
• dbSNP Id: rs1323360125
• gnomAD v3: 5-150393472-C-G
• gnomAD v4: 5-150393472-C-G
• MyVariant Identifiers: chr5:g.149773035C>G (hg19) ; chr5:g.150393472C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393472C>G , CM000667.2:g.150393472C>G	GRCh38
NC_000005.9:g.149773035C>G , CM000667.1:g.149773035C>G	GRCh37
NC_000005.8:g.149753228C>G	NCBI36
NG_011341.1:g.40834C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3587C>G	ENSP00000390717.3:p.Thr1196Ser
ENST00000643257.2:c.3704C>G MANE Select	ENSP00000493815.1:p.Thr1235Ser
ENST00000650162.1:c.3359C>G	ENSP00000497075.1:p.Thr1120Ser
ENST00000674413.1:c.3103C>G
ENST00000323668.11:c.3470C>G	ENSP00000325223.6:p.Thr1157Ser
ENST00000377797.7:c.3701C>G	ENSP00000367028.4:p.Thr1234Ser
ENST00000427724.6:c.3587C>G	ENSP00000390717.2:p.Thr1196Ser
ENST00000439160.6:c.3590C>G	ENSP00000406888.2:p.Thr1197Ser
ENST00000445265.6:c.3473C>G	ENSP00000409944.2:p.Thr1158Ser
ENST00000504761.6:c.3701C>G	ENSP00000421655.2:p.Thr1234Ser
ENST00000513346.5:c.3701C>G	ENSP00000427484.1:p.Thr1234Ser
ENST00000514442.5:n.3751C>G
ENST00000515516.1:c.343-3271C>G	ENSP00000426471.1:n.343-3271C>G
NM_000356.3:c.3470C>G	NP_000347.2:p.Thr1157Ser
NM_001135243.1:c.3701C>G	NP_001128715.1:p.Thr1234Ser
NM_001135244.1:c.3590C>G	NP_001128716.1:p.Thr1197Ser
NM_001135245.1:c.3473C>G	NP_001128717.1:p.Thr1158Ser
NM_001195141.1:c.3587C>G	NP_001182070.1:p.Thr1196Ser
XM_005268502.2:c.3815C>G	XP_005268559.1:p.Thr1272Ser
XM_005268503.2:c.3812C>G	XP_005268560.1:p.Thr1271Ser
XM_005268504.2:c.3812C>G	XP_005268561.1:p.Thr1271Ser
XM_005268505.2:c.3704C>G	XP_005268562.1:p.Thr1235Ser
XM_005268506.2:c.3701C>G	XP_005268563.1:p.Thr1234Ser
XM_005268507.2:c.3584C>G	XP_005268564.1:p.Thr1195Ser
XM_011537678.1:c.3635C>G	XP_011535980.1:p.Thr1212Ser
XR_427778.1:n.3819C>G
XR_427780.1:n.3708C>G
XM_005268502.4:c.3815C>G	XP_005268559.1:p.Thr1272Ser
XM_005268503.4:c.3812C>G	XP_005268560.1:p.Thr1271Ser
XM_005268504.4:c.3812C>G	XP_005268561.1:p.Thr1271Ser
XM_005268505.4:c.3704C>G	XP_005268562.1:p.Thr1235Ser
XM_005268506.4:c.3701C>G	XP_005268563.1:p.Thr1234Ser
XM_005268507.4:c.3584C>G	XP_005268564.1:p.Thr1195Ser
XM_011537678.3:c.3635C>G	XP_011535980.1:p.Thr1212Ser
XM_017009792.2:c.3698C>G	XP_016865281.1:p.Thr1233Ser
XM_017009793.2:c.3524C>G	XP_016865282.1:p.Thr1175Ser
XM_017009794.2:c.3410C>G	XP_016865283.1:p.Thr1137Ser
XR_427778.3:n.3821C>G
XR_427780.3:n.3710C>G
NM_000356.4:c.3470C>G	NP_000347.2:p.Thr1157Ser
NM_001135244.2:c.3590C>G	NP_001128716.1:p.Thr1197Ser
NM_001135245.2:c.3473C>G	NP_001128717.1:p.Thr1158Ser
NM_001195141.2:c.3587C>G	NP_001182070.1:p.Thr1196Ser
NM_001371623.1:c.3704C>G MANE Select	NP_001358552.1:p.Thr1235Ser
NM_001135243.2:c.3701C>G	NP_001128715.1:p.Thr1234Ser