Canonical Allele Identifier: CA361739862

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149773086A>T (hg19) ; chr5:g.150393523A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393523A>T , CM000667.2:g.150393523A>T	GRCh38
NC_000005.9:g.149773086A>T , CM000667.1:g.149773086A>T	GRCh37
NC_000005.8:g.149753279A>T	NCBI36
NG_011341.1:g.40885A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3638A>T	ENSP00000390717.3:p.Gln1213Leu
ENST00000643257.2:c.3755A>T MANE Select	ENSP00000493815.1:p.Gln1252Leu
ENST00000650162.1:c.3410A>T	ENSP00000497075.1:p.Gln1137Leu
ENST00000674413.1:c.3154A>T
ENST00000323668.11:c.3521A>T	ENSP00000325223.6:p.Gln1174Leu
ENST00000377797.7:c.3752A>T	ENSP00000367028.4:p.Gln1251Leu
ENST00000427724.6:c.3638A>T	ENSP00000390717.2:p.Gln1213Leu
ENST00000439160.6:c.3641A>T	ENSP00000406888.2:p.Gln1214Leu
ENST00000445265.6:c.3524A>T	ENSP00000409944.2:p.Gln1175Leu
ENST00000504761.6:c.3752A>T	ENSP00000421655.2:p.Gln1251Leu
ENST00000513346.5:c.3752A>T	ENSP00000427484.1:p.Gln1251Leu
ENST00000514442.5:n.3802A>T
ENST00000515516.1:c.343-3220A>T	ENSP00000426471.1:n.343-3220A>T
NM_000356.3:c.3521A>T	NP_000347.2:p.Gln1174Leu
NM_001135243.1:c.3752A>T	NP_001128715.1:p.Gln1251Leu
NM_001135244.1:c.3641A>T	NP_001128716.1:p.Gln1214Leu
NM_001135245.1:c.3524A>T	NP_001128717.1:p.Gln1175Leu
NM_001195141.1:c.3638A>T	NP_001182070.1:p.Gln1213Leu
XM_005268502.2:c.3866A>T	XP_005268559.1:p.Gln1289Leu
XM_005268503.2:c.3863A>T	XP_005268560.1:p.Gln1288Leu
XM_005268504.2:c.3863A>T	XP_005268561.1:p.Gln1288Leu
XM_005268505.2:c.3755A>T	XP_005268562.1:p.Gln1252Leu
XM_005268506.2:c.3752A>T	XP_005268563.1:p.Gln1251Leu
XM_005268507.2:c.3635A>T	XP_005268564.1:p.Gln1212Leu
XM_011537678.1:c.3686A>T	XP_011535980.1:p.Gln1229Leu
XR_427778.1:n.3870A>T
XR_427780.1:n.3759A>T
XM_005268502.4:c.3866A>T	XP_005268559.1:p.Gln1289Leu
XM_005268503.4:c.3863A>T	XP_005268560.1:p.Gln1288Leu
XM_005268504.4:c.3863A>T	XP_005268561.1:p.Gln1288Leu
XM_005268505.4:c.3755A>T	XP_005268562.1:p.Gln1252Leu
XM_005268506.4:c.3752A>T	XP_005268563.1:p.Gln1251Leu
XM_005268507.4:c.3635A>T	XP_005268564.1:p.Gln1212Leu
XM_011537678.3:c.3686A>T	XP_011535980.1:p.Gln1229Leu
XM_017009792.2:c.3749A>T	XP_016865281.1:p.Gln1250Leu
XM_017009793.2:c.3575A>T	XP_016865282.1:p.Gln1192Leu
XM_017009794.2:c.3461A>T	XP_016865283.1:p.Gln1154Leu
XR_427778.3:n.3872A>T
XR_427780.3:n.3761A>T
NM_000356.4:c.3521A>T	NP_000347.2:p.Gln1174Leu
NM_001135244.2:c.3641A>T	NP_001128716.1:p.Gln1214Leu
NM_001135245.2:c.3524A>T	NP_001128717.1:p.Gln1175Leu
NM_001195141.2:c.3638A>T	NP_001182070.1:p.Gln1213Leu
NM_001371623.1:c.3755A>T MANE Select	NP_001358552.1:p.Gln1252Leu
NM_001135243.2:c.3752A>T	NP_001128715.1:p.Gln1251Leu