Canonical Allele Identifier: CA361739021

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772955G>A (hg19) ; chr5:g.150393392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393392G>A , CM000667.2:g.150393392G>A	GRCh38
NC_000005.9:g.149772955G>A , CM000667.1:g.149772955G>A	GRCh37
NC_000005.8:g.149753148G>A	NCBI36
NG_011341.1:g.40754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3507G>A	ENSP00000390717.3:p.Met1169Ile
ENST00000643257.2:c.3624G>A MANE Select	ENSP00000493815.1:p.Met1208Ile
ENST00000650162.1:c.3279G>A	ENSP00000497075.1:p.Met1093Ile
ENST00000674413.1:c.3023G>A
ENST00000323668.11:c.3390G>A	ENSP00000325223.6:p.Met1130Ile
ENST00000377797.7:c.3621G>A	ENSP00000367028.4:p.Met1207Ile
ENST00000427724.6:c.3507G>A	ENSP00000390717.2:p.Met1169Ile
ENST00000439160.6:c.3510G>A	ENSP00000406888.2:p.Met1170Ile
ENST00000445265.6:c.3393G>A	ENSP00000409944.2:p.Met1131Ile
ENST00000504761.6:c.3621G>A	ENSP00000421655.2:p.Met1207Ile
ENST00000513346.5:c.3621G>A	ENSP00000427484.1:p.Met1207Ile
ENST00000514442.5:n.3671G>A
ENST00000515516.1:c.343-3351G>A	ENSP00000426471.1:n.343-3351G>A
NM_000356.3:c.3390G>A	NP_000347.2:p.Met1130Ile
NM_001135243.1:c.3621G>A	NP_001128715.1:p.Met1207Ile
NM_001135244.1:c.3510G>A	NP_001128716.1:p.Met1170Ile
NM_001135245.1:c.3393G>A	NP_001128717.1:p.Met1131Ile
NM_001195141.1:c.3507G>A	NP_001182070.1:p.Met1169Ile
XM_005268502.2:c.3735G>A	XP_005268559.1:p.Met1245Ile
XM_005268503.2:c.3732G>A	XP_005268560.1:p.Met1244Ile
XM_005268504.2:c.3732G>A	XP_005268561.1:p.Met1244Ile
XM_005268505.2:c.3624G>A	XP_005268562.1:p.Met1208Ile
XM_005268506.2:c.3621G>A	XP_005268563.1:p.Met1207Ile
XM_005268507.2:c.3504G>A	XP_005268564.1:p.Met1168Ile
XM_011537678.1:c.3555G>A	XP_011535980.1:p.Met1185Ile
XR_427778.1:n.3739G>A
XR_427780.1:n.3628G>A
XM_005268502.4:c.3735G>A	XP_005268559.1:p.Met1245Ile
XM_005268503.4:c.3732G>A	XP_005268560.1:p.Met1244Ile
XM_005268504.4:c.3732G>A	XP_005268561.1:p.Met1244Ile
XM_005268505.4:c.3624G>A	XP_005268562.1:p.Met1208Ile
XM_005268506.4:c.3621G>A	XP_005268563.1:p.Met1207Ile
XM_005268507.4:c.3504G>A	XP_005268564.1:p.Met1168Ile
XM_011537678.3:c.3555G>A	XP_011535980.1:p.Met1185Ile
XM_017009792.2:c.3618G>A	XP_016865281.1:p.Met1206Ile
XM_017009793.2:c.3444G>A	XP_016865282.1:p.Met1148Ile
XM_017009794.2:c.3330G>A	XP_016865283.1:p.Met1110Ile
XR_427778.3:n.3741G>A
XR_427780.3:n.3630G>A
NM_000356.4:c.3390G>A	NP_000347.2:p.Met1130Ile
NM_001135244.2:c.3510G>A	NP_001128716.1:p.Met1170Ile
NM_001135245.2:c.3393G>A	NP_001128717.1:p.Met1131Ile
NM_001195141.2:c.3507G>A	NP_001182070.1:p.Met1169Ile
NM_001371623.1:c.3624G>A MANE Select	NP_001358552.1:p.Met1208Ile
NM_001135243.2:c.3621G>A	NP_001128715.1:p.Met1207Ile