Canonical Allele Identifier: CA361739441

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149773006G>C (hg19) ; chr5:g.150393443G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393443G>C , CM000667.2:g.150393443G>C	GRCh38
NC_000005.9:g.149773006G>C , CM000667.1:g.149773006G>C	GRCh37
NC_000005.8:g.149753199G>C	NCBI36
NG_011341.1:g.40805G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3558G>C	ENSP00000390717.3:p.Lys1186Asn
ENST00000643257.2:c.3675G>C MANE Select	ENSP00000493815.1:p.Lys1225Asn
ENST00000650162.1:c.3330G>C	ENSP00000497075.1:p.Lys1110Asn
ENST00000674413.1:c.3074G>C
ENST00000323668.11:c.3441G>C	ENSP00000325223.6:p.Lys1147Asn
ENST00000377797.7:c.3672G>C	ENSP00000367028.4:p.Lys1224Asn
ENST00000427724.6:c.3558G>C	ENSP00000390717.2:p.Lys1186Asn
ENST00000439160.6:c.3561G>C	ENSP00000406888.2:p.Lys1187Asn
ENST00000445265.6:c.3444G>C	ENSP00000409944.2:p.Lys1148Asn
ENST00000504761.6:c.3672G>C	ENSP00000421655.2:p.Lys1224Asn
ENST00000513346.5:c.3672G>C	ENSP00000427484.1:p.Lys1224Asn
ENST00000514442.5:n.3722G>C
ENST00000515516.1:c.343-3300G>C	ENSP00000426471.1:n.343-3300G>C
NM_000356.3:c.3441G>C	NP_000347.2:p.Lys1147Asn
NM_001135243.1:c.3672G>C	NP_001128715.1:p.Lys1224Asn
NM_001135244.1:c.3561G>C	NP_001128716.1:p.Lys1187Asn
NM_001135245.1:c.3444G>C	NP_001128717.1:p.Lys1148Asn
NM_001195141.1:c.3558G>C	NP_001182070.1:p.Lys1186Asn
XM_005268502.2:c.3786G>C	XP_005268559.1:p.Lys1262Asn
XM_005268503.2:c.3783G>C	XP_005268560.1:p.Lys1261Asn
XM_005268504.2:c.3783G>C	XP_005268561.1:p.Lys1261Asn
XM_005268505.2:c.3675G>C	XP_005268562.1:p.Lys1225Asn
XM_005268506.2:c.3672G>C	XP_005268563.1:p.Lys1224Asn
XM_005268507.2:c.3555G>C	XP_005268564.1:p.Lys1185Asn
XM_011537678.1:c.3606G>C	XP_011535980.1:p.Lys1202Asn
XR_427778.1:n.3790G>C
XR_427780.1:n.3679G>C
XM_005268502.4:c.3786G>C	XP_005268559.1:p.Lys1262Asn
XM_005268503.4:c.3783G>C	XP_005268560.1:p.Lys1261Asn
XM_005268504.4:c.3783G>C	XP_005268561.1:p.Lys1261Asn
XM_005268505.4:c.3675G>C	XP_005268562.1:p.Lys1225Asn
XM_005268506.4:c.3672G>C	XP_005268563.1:p.Lys1224Asn
XM_005268507.4:c.3555G>C	XP_005268564.1:p.Lys1185Asn
XM_011537678.3:c.3606G>C	XP_011535980.1:p.Lys1202Asn
XM_017009792.2:c.3669G>C	XP_016865281.1:p.Lys1223Asn
XM_017009793.2:c.3495G>C	XP_016865282.1:p.Lys1165Asn
XM_017009794.2:c.3381G>C	XP_016865283.1:p.Lys1127Asn
XR_427778.3:n.3792G>C
XR_427780.3:n.3681G>C
NM_000356.4:c.3441G>C	NP_000347.2:p.Lys1147Asn
NM_001135244.2:c.3561G>C	NP_001128716.1:p.Lys1187Asn
NM_001135245.2:c.3444G>C	NP_001128717.1:p.Lys1148Asn
NM_001195141.2:c.3558G>C	NP_001182070.1:p.Lys1186Asn
NM_001371623.1:c.3675G>C MANE Select	NP_001358552.1:p.Lys1225Asn
NM_001135243.2:c.3672G>C	NP_001128715.1:p.Lys1224Asn