Canonical Allele Identifier: CA361739358

Gene: TCOF1

Linked Data

• dbSNP Id: rs1767830619
• gnomAD v3: 5-150393433-C-T
• gnomAD v4: 5-150393433-C-T
• MyVariant Identifiers: chr5:g.149772996C>T (hg19) ; chr5:g.150393433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393433C>T , CM000667.2:g.150393433C>T	GRCh38
NC_000005.9:g.149772996C>T , CM000667.1:g.149772996C>T	GRCh37
NC_000005.8:g.149753189C>T	NCBI36
NG_011341.1:g.40795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3548C>T	ENSP00000390717.3:p.Ala1183Val
ENST00000643257.2:c.3665C>T MANE Select	ENSP00000493815.1:p.Ala1222Val
ENST00000650162.1:c.3320C>T	ENSP00000497075.1:p.Ala1107Val
ENST00000674413.1:c.3064C>T
ENST00000323668.11:c.3431C>T	ENSP00000325223.6:p.Ala1144Val
ENST00000377797.7:c.3662C>T	ENSP00000367028.4:p.Ala1221Val
ENST00000427724.6:c.3548C>T	ENSP00000390717.2:p.Ala1183Val
ENST00000439160.6:c.3551C>T	ENSP00000406888.2:p.Ala1184Val
ENST00000445265.6:c.3434C>T	ENSP00000409944.2:p.Ala1145Val
ENST00000504761.6:c.3662C>T	ENSP00000421655.2:p.Ala1221Val
ENST00000513346.5:c.3662C>T	ENSP00000427484.1:p.Ala1221Val
ENST00000514442.5:n.3712C>T
ENST00000515516.1:c.343-3310C>T	ENSP00000426471.1:n.343-3310C>T
NM_000356.3:c.3431C>T	NP_000347.2:p.Ala1144Val
NM_001135243.1:c.3662C>T	NP_001128715.1:p.Ala1221Val
NM_001135244.1:c.3551C>T	NP_001128716.1:p.Ala1184Val
NM_001135245.1:c.3434C>T	NP_001128717.1:p.Ala1145Val
NM_001195141.1:c.3548C>T	NP_001182070.1:p.Ala1183Val
XM_005268502.2:c.3776C>T	XP_005268559.1:p.Ala1259Val
XM_005268503.2:c.3773C>T	XP_005268560.1:p.Ala1258Val
XM_005268504.2:c.3773C>T	XP_005268561.1:p.Ala1258Val
XM_005268505.2:c.3665C>T	XP_005268562.1:p.Ala1222Val
XM_005268506.2:c.3662C>T	XP_005268563.1:p.Ala1221Val
XM_005268507.2:c.3545C>T	XP_005268564.1:p.Ala1182Val
XM_011537678.1:c.3596C>T	XP_011535980.1:p.Ala1199Val
XR_427778.1:n.3780C>T
XR_427780.1:n.3669C>T
XM_005268502.4:c.3776C>T	XP_005268559.1:p.Ala1259Val
XM_005268503.4:c.3773C>T	XP_005268560.1:p.Ala1258Val
XM_005268504.4:c.3773C>T	XP_005268561.1:p.Ala1258Val
XM_005268505.4:c.3665C>T	XP_005268562.1:p.Ala1222Val
XM_005268506.4:c.3662C>T	XP_005268563.1:p.Ala1221Val
XM_005268507.4:c.3545C>T	XP_005268564.1:p.Ala1182Val
XM_011537678.3:c.3596C>T	XP_011535980.1:p.Ala1199Val
XM_017009792.2:c.3659C>T	XP_016865281.1:p.Ala1220Val
XM_017009793.2:c.3485C>T	XP_016865282.1:p.Ala1162Val
XM_017009794.2:c.3371C>T	XP_016865283.1:p.Ala1124Val
XR_427778.3:n.3782C>T
XR_427780.3:n.3671C>T
NM_000356.4:c.3431C>T	NP_000347.2:p.Ala1144Val
NM_001135244.2:c.3551C>T	NP_001128716.1:p.Ala1184Val
NM_001135245.2:c.3434C>T	NP_001128717.1:p.Ala1145Val
NM_001195141.2:c.3548C>T	NP_001182070.1:p.Ala1183Val
NM_001371623.1:c.3665C>T MANE Select	NP_001358552.1:p.Ala1222Val
NM_001135243.2:c.3662C>T	NP_001128715.1:p.Ala1221Val