Canonical Allele Identifier: CA361739716

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149773066G>C (hg19) ; chr5:g.150393503G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393503G>C , CM000667.2:g.150393503G>C	GRCh38
NC_000005.9:g.149773066G>C , CM000667.1:g.149773066G>C	GRCh37
NC_000005.8:g.149753259G>C	NCBI36
NG_011341.1:g.40865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3618G>C	ENSP00000390717.3:p.Lys1206Asn
ENST00000643257.2:c.3735G>C MANE Select	ENSP00000493815.1:p.Lys1245Asn
ENST00000650162.1:c.3390G>C	ENSP00000497075.1:p.Lys1130Asn
ENST00000674413.1:c.3134G>C
ENST00000323668.11:c.3501G>C	ENSP00000325223.6:p.Lys1167Asn
ENST00000377797.7:c.3732G>C	ENSP00000367028.4:p.Lys1244Asn
ENST00000427724.6:c.3618G>C	ENSP00000390717.2:p.Lys1206Asn
ENST00000439160.6:c.3621G>C	ENSP00000406888.2:p.Lys1207Asn
ENST00000445265.6:c.3504G>C	ENSP00000409944.2:p.Lys1168Asn
ENST00000504761.6:c.3732G>C	ENSP00000421655.2:p.Lys1244Asn
ENST00000513346.5:c.3732G>C	ENSP00000427484.1:p.Lys1244Asn
ENST00000514442.5:n.3782G>C
ENST00000515516.1:c.343-3240G>C	ENSP00000426471.1:n.343-3240G>C
NM_000356.3:c.3501G>C	NP_000347.2:p.Lys1167Asn
NM_001135243.1:c.3732G>C	NP_001128715.1:p.Lys1244Asn
NM_001135244.1:c.3621G>C	NP_001128716.1:p.Lys1207Asn
NM_001135245.1:c.3504G>C	NP_001128717.1:p.Lys1168Asn
NM_001195141.1:c.3618G>C	NP_001182070.1:p.Lys1206Asn
XM_005268502.2:c.3846G>C	XP_005268559.1:p.Lys1282Asn
XM_005268503.2:c.3843G>C	XP_005268560.1:p.Lys1281Asn
XM_005268504.2:c.3843G>C	XP_005268561.1:p.Lys1281Asn
XM_005268505.2:c.3735G>C	XP_005268562.1:p.Lys1245Asn
XM_005268506.2:c.3732G>C	XP_005268563.1:p.Lys1244Asn
XM_005268507.2:c.3615G>C	XP_005268564.1:p.Lys1205Asn
XM_011537678.1:c.3666G>C	XP_011535980.1:p.Lys1222Asn
XR_427778.1:n.3850G>C
XR_427780.1:n.3739G>C
XM_005268502.4:c.3846G>C	XP_005268559.1:p.Lys1282Asn
XM_005268503.4:c.3843G>C	XP_005268560.1:p.Lys1281Asn
XM_005268504.4:c.3843G>C	XP_005268561.1:p.Lys1281Asn
XM_005268505.4:c.3735G>C	XP_005268562.1:p.Lys1245Asn
XM_005268506.4:c.3732G>C	XP_005268563.1:p.Lys1244Asn
XM_005268507.4:c.3615G>C	XP_005268564.1:p.Lys1205Asn
XM_011537678.3:c.3666G>C	XP_011535980.1:p.Lys1222Asn
XM_017009792.2:c.3729G>C	XP_016865281.1:p.Lys1243Asn
XM_017009793.2:c.3555G>C	XP_016865282.1:p.Lys1185Asn
XM_017009794.2:c.3441G>C	XP_016865283.1:p.Lys1147Asn
XR_427778.3:n.3852G>C
XR_427780.3:n.3741G>C
NM_000356.4:c.3501G>C	NP_000347.2:p.Lys1167Asn
NM_001135244.2:c.3621G>C	NP_001128716.1:p.Lys1207Asn
NM_001135245.2:c.3504G>C	NP_001128717.1:p.Lys1168Asn
NM_001195141.2:c.3618G>C	NP_001182070.1:p.Lys1206Asn
NM_001371623.1:c.3735G>C MANE Select	NP_001358552.1:p.Lys1245Asn
NM_001135243.2:c.3732G>C	NP_001128715.1:p.Lys1244Asn