Canonical Allele Identifier: CA3511577

Gene: TCOF1

Linked Data

• dbSNP Id: rs776918121
• ExAC: 5:149773024 A / C
• gnomAD v2: 5-149773024-A-C
• gnomAD v4: 5-150393461-A-C
• MyVariant Identifiers: chr5:g.149773024A>C (hg19) ; chr5:g.150393461A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393461A>C , CM000667.2:g.150393461A>C	GRCh38
NC_000005.9:g.149773024A>C , CM000667.1:g.149773024A>C	GRCh37
NC_000005.8:g.149753217A>C	NCBI36
NG_011341.1:g.40823A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3576A>C	ENSP00000390717.3:p.Ser1192=
ENST00000643257.2:c.3693A>C MANE Select	ENSP00000493815.1:p.Ser1231=
ENST00000650162.1:c.3348A>C	ENSP00000497075.1:p.Ser1116=
ENST00000674413.1:c.3092A>C
ENST00000323668.11:c.3459A>C	ENSP00000325223.6:p.Ser1153=
ENST00000377797.7:c.3690A>C	ENSP00000367028.4:p.Ser1230=
ENST00000427724.6:c.3576A>C	ENSP00000390717.2:p.Ser1192=
ENST00000439160.6:c.3579A>C	ENSP00000406888.2:p.Ser1193=
ENST00000445265.6:c.3462A>C	ENSP00000409944.2:p.Ser1154=
ENST00000504761.6:c.3690A>C	ENSP00000421655.2:p.Ser1230=
ENST00000513346.5:c.3690A>C	ENSP00000427484.1:p.Ser1230=
ENST00000514442.5:n.3740A>C
ENST00000515516.1:c.343-3282A>C	ENSP00000426471.1:n.343-3282A>C
NM_000356.3:c.3459A>C	NP_000347.2:p.Ser1153=
NM_001135243.1:c.3690A>C	NP_001128715.1:p.Ser1230=
NM_001135244.1:c.3579A>C	NP_001128716.1:p.Ser1193=
NM_001135245.1:c.3462A>C	NP_001128717.1:p.Ser1154=
NM_001195141.1:c.3576A>C	NP_001182070.1:p.Ser1192=
XM_005268502.2:c.3804A>C	XP_005268559.1:p.Ser1268=
XM_005268503.2:c.3801A>C	XP_005268560.1:p.Ser1267=
XM_005268504.2:c.3801A>C	XP_005268561.1:p.Ser1267=
XM_005268505.2:c.3693A>C	XP_005268562.1:p.Ser1231=
XM_005268506.2:c.3690A>C	XP_005268563.1:p.Ser1230=
XM_005268507.2:c.3573A>C	XP_005268564.1:p.Ser1191=
XM_011537678.1:c.3624A>C	XP_011535980.1:p.Ser1208=
XR_427778.1:n.3808A>C
XR_427780.1:n.3697A>C
XM_005268502.4:c.3804A>C	XP_005268559.1:p.Ser1268=
XM_005268503.4:c.3801A>C	XP_005268560.1:p.Ser1267=
XM_005268504.4:c.3801A>C	XP_005268561.1:p.Ser1267=
XM_005268505.4:c.3693A>C	XP_005268562.1:p.Ser1231=
XM_005268506.4:c.3690A>C	XP_005268563.1:p.Ser1230=
XM_005268507.4:c.3573A>C	XP_005268564.1:p.Ser1191=
XM_011537678.3:c.3624A>C	XP_011535980.1:p.Ser1208=
XM_017009792.2:c.3687A>C	XP_016865281.1:p.Ser1229=
XM_017009793.2:c.3513A>C	XP_016865282.1:p.Ser1171=
XM_017009794.2:c.3399A>C	XP_016865283.1:p.Ser1133=
XR_427778.3:n.3810A>C
XR_427780.3:n.3699A>C
NM_000356.4:c.3459A>C	NP_000347.2:p.Ser1153=
NM_001135244.2:c.3579A>C	NP_001128716.1:p.Ser1193=
NM_001135245.2:c.3462A>C	NP_001128717.1:p.Ser1154=
NM_001195141.2:c.3576A>C	NP_001182070.1:p.Ser1192=
NM_001371623.1:c.3693A>C MANE Select	NP_001358552.1:p.Ser1231=
NM_001135243.2:c.3690A>C	NP_001128715.1:p.Ser1230=