Canonical Allele Identifier: CA361733620

Gene: TCOF1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150390023G>C , CM000667.2:g.150390023G>C	GRCh38
NC_000005.9:g.149769586G>C , CM000667.1:g.149769586G>C	GRCh37
NC_000005.8:g.149749779G>C	NCBI36
NG_011341.1:g.37385G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001371623.1:c.3183G>C MANE Select	NP_001358552.1:p.Gln1061His
ENST00000643257.2:c.3183G>C MANE Select	ENSP00000493815.1:p.Gln1061His
NM_000356.3:c.2952G>C	NP_000347.2:p.Gln984His
NM_000356.4:c.2952G>C	NP_000347.2:p.Gln984His
NM_001135243.1:c.3183G>C	NP_001128715.1:p.Gln1061His
NM_001135243.2:c.3183G>C	NP_001128715.1:p.Gln1061His
NM_001135244.1:c.3183G>C	NP_001128716.1:p.Gln1061His
NM_001135244.2:c.3183G>C	NP_001128716.1:p.Gln1061His
NM_001135245.1:c.2952G>C	NP_001128717.1:p.Gln984His
NM_001135245.2:c.2952G>C	NP_001128717.1:p.Gln984His
NM_001195141.1:c.3183G>C	NP_001182070.1:p.Gln1061His
NM_001195141.2:c.3183G>C	NP_001182070.1:p.Gln1061His
ENST00000323668.11:c.2952G>C	ENSP00000325223.6:p.Gln984His
ENST00000377797.7:c.3183G>C	ENSP00000367028.4:p.Gln1061His
ENST00000427724.6:c.3183G>C	ENSP00000390717.2:p.Gln1061His
ENST00000427724.7:c.3183G>C	ENSP00000390717.3:p.Gln1061His
ENST00000439160.6:c.3183G>C	ENSP00000406888.2:p.Gln1061His
ENST00000445265.6:c.2952G>C	ENSP00000409944.2:p.Gln984His
ENST00000504761.6:c.3183G>C	ENSP00000421655.2:p.Gln1061His
ENST00000506630.1:n.77G>C
ENST00000506767.1:c.617G>C
ENST00000513346.5:c.3294G>C	ENSP00000427484.1:p.Gln1098His
ENST00000514442.5:n.1983G>C
ENST00000515516.1:c.343-6720G>C	ENSP00000426471.1:n.343-6720G>C
ENST00000650162.1:c.2952G>C	ENSP00000497075.1:p.Gln984His
ENST00000674413.1:c.2582G>C
XM_005268502.2:c.3294G>C	XP_005268559.1:p.Gln1098His
XM_005268502.4:c.3294G>C	XP_005268559.1:p.Gln1098His
XM_005268503.2:c.3291G>C	XP_005268560.1:p.Gln1097His
XM_005268503.4:c.3291G>C	XP_005268560.1:p.Gln1097His
XM_005268504.2:c.3294G>C	XP_005268561.1:p.Gln1098His
XM_005268504.4:c.3294G>C	XP_005268561.1:p.Gln1098His
XM_005268505.2:c.3183G>C	XP_005268562.1:p.Gln1061His
XM_005268505.4:c.3183G>C	XP_005268562.1:p.Gln1061His
XM_005268506.2:c.3294G>C	XP_005268563.1:p.Gln1098His
XM_005268506.4:c.3294G>C	XP_005268563.1:p.Gln1098His
XM_005268507.2:c.3063G>C	XP_005268564.1:p.Gln1021His
XM_005268507.4:c.3063G>C	XP_005268564.1:p.Gln1021His
XM_011537678.1:c.3114G>C	XP_011535980.1:p.Gln1038His
XM_011537678.3:c.3114G>C	XP_011535980.1:p.Gln1038His
XM_017009792.2:c.3294G>C	XP_016865281.1:p.Gln1098His
XM_017009793.2:c.3003G>C	XP_016865282.1:p.Gln1001His
XM_017009794.2:c.3003G>C	XP_016865283.1:p.Gln1001His
XR_427778.1:n.3298G>C
XR_427778.3:n.3300G>C
XR_427779.1:n.3298G>C
XR_427779.2:n.3300G>C
XR_427780.1:n.3187G>C
XR_427780.3:n.3189G>C