Canonical Allele Identifier: CA361739684

Gene: TCOF1

Linked Data

• gnomAD v4: 5-150393497-T-G
• MyVariant Identifiers: chr5:g.149773060T>G (hg19) ; chr5:g.150393497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393497T>G , CM000667.2:g.150393497T>G	GRCh38
NC_000005.9:g.149773060T>G , CM000667.1:g.149773060T>G	GRCh37
NC_000005.8:g.149753253T>G	NCBI36
NG_011341.1:g.40859T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3612T>G	ENSP00000390717.3:p.Asp1204Glu
ENST00000643257.2:c.3729T>G MANE Select	ENSP00000493815.1:p.Asp1243Glu
ENST00000650162.1:c.3384T>G	ENSP00000497075.1:p.Asp1128Glu
ENST00000674413.1:c.3128T>G
ENST00000323668.11:c.3495T>G	ENSP00000325223.6:p.Asp1165Glu
ENST00000377797.7:c.3726T>G	ENSP00000367028.4:p.Asp1242Glu
ENST00000427724.6:c.3612T>G	ENSP00000390717.2:p.Asp1204Glu
ENST00000439160.6:c.3615T>G	ENSP00000406888.2:p.Asp1205Glu
ENST00000445265.6:c.3498T>G	ENSP00000409944.2:p.Asp1166Glu
ENST00000504761.6:c.3726T>G	ENSP00000421655.2:p.Asp1242Glu
ENST00000513346.5:c.3726T>G	ENSP00000427484.1:p.Asp1242Glu
ENST00000514442.5:n.3776T>G
ENST00000515516.1:c.343-3246T>G	ENSP00000426471.1:n.343-3246T>G
NM_000356.3:c.3495T>G	NP_000347.2:p.Asp1165Glu
NM_001135243.1:c.3726T>G	NP_001128715.1:p.Asp1242Glu
NM_001135244.1:c.3615T>G	NP_001128716.1:p.Asp1205Glu
NM_001135245.1:c.3498T>G	NP_001128717.1:p.Asp1166Glu
NM_001195141.1:c.3612T>G	NP_001182070.1:p.Asp1204Glu
XM_005268502.2:c.3840T>G	XP_005268559.1:p.Asp1280Glu
XM_005268503.2:c.3837T>G	XP_005268560.1:p.Asp1279Glu
XM_005268504.2:c.3837T>G	XP_005268561.1:p.Asp1279Glu
XM_005268505.2:c.3729T>G	XP_005268562.1:p.Asp1243Glu
XM_005268506.2:c.3726T>G	XP_005268563.1:p.Asp1242Glu
XM_005268507.2:c.3609T>G	XP_005268564.1:p.Asp1203Glu
XM_011537678.1:c.3660T>G	XP_011535980.1:p.Asp1220Glu
XR_427778.1:n.3844T>G
XR_427780.1:n.3733T>G
XM_005268502.4:c.3840T>G	XP_005268559.1:p.Asp1280Glu
XM_005268503.4:c.3837T>G	XP_005268560.1:p.Asp1279Glu
XM_005268504.4:c.3837T>G	XP_005268561.1:p.Asp1279Glu
XM_005268505.4:c.3729T>G	XP_005268562.1:p.Asp1243Glu
XM_005268506.4:c.3726T>G	XP_005268563.1:p.Asp1242Glu
XM_005268507.4:c.3609T>G	XP_005268564.1:p.Asp1203Glu
XM_011537678.3:c.3660T>G	XP_011535980.1:p.Asp1220Glu
XM_017009792.2:c.3723T>G	XP_016865281.1:p.Asp1241Glu
XM_017009793.2:c.3549T>G	XP_016865282.1:p.Asp1183Glu
XM_017009794.2:c.3435T>G	XP_016865283.1:p.Asp1145Glu
XR_427778.3:n.3846T>G
XR_427780.3:n.3735T>G
NM_000356.4:c.3495T>G	NP_000347.2:p.Asp1165Glu
NM_001135244.2:c.3615T>G	NP_001128716.1:p.Asp1205Glu
NM_001135245.2:c.3498T>G	NP_001128717.1:p.Asp1166Glu
NM_001195141.2:c.3612T>G	NP_001182070.1:p.Asp1204Glu
NM_001371623.1:c.3729T>G MANE Select	NP_001358552.1:p.Asp1243Glu
NM_001135243.2:c.3726T>G	NP_001128715.1:p.Asp1242Glu