Canonical Allele Identifier: CA129107174

Gene: TCOF1

Linked Data

• dbSNP Id: rs558700013
• gnomAD v2: 5-149772960-C-T
• gnomAD v4: 5-150393397-C-T
• MyVariant Identifiers: chr5:g.149772960C>T (hg19) ; chr5:g.150393397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393397C>T , CM000667.2:g.150393397C>T	GRCh38
NC_000005.9:g.149772960C>T , CM000667.1:g.149772960C>T	GRCh37
NC_000005.8:g.149753153C>T	NCBI36
NG_011341.1:g.40759C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.3512C>T	ENSP00000390717.3:p.Pro1171Leu
ENST00000643257.2:c.3629C>T MANE Select	ENSP00000493815.1:p.Pro1210Leu
ENST00000650162.1:c.3284C>T	ENSP00000497075.1:p.Pro1095Leu
ENST00000674413.1:c.3028C>T
ENST00000323668.11:c.3395C>T	ENSP00000325223.6:p.Pro1132Leu
ENST00000377797.7:c.3626C>T	ENSP00000367028.4:p.Pro1209Leu
ENST00000427724.6:c.3512C>T	ENSP00000390717.2:p.Pro1171Leu
ENST00000439160.6:c.3515C>T	ENSP00000406888.2:p.Pro1172Leu
ENST00000445265.6:c.3398C>T	ENSP00000409944.2:p.Pro1133Leu
ENST00000504761.6:c.3626C>T	ENSP00000421655.2:p.Pro1209Leu
ENST00000513346.5:c.3626C>T	ENSP00000427484.1:p.Pro1209Leu
ENST00000514442.5:n.3676C>T
ENST00000515516.1:c.343-3346C>T	ENSP00000426471.1:n.343-3346C>T
NM_000356.3:c.3395C>T	NP_000347.2:p.Pro1132Leu
NM_001135243.1:c.3626C>T	NP_001128715.1:p.Pro1209Leu
NM_001135244.1:c.3515C>T	NP_001128716.1:p.Pro1172Leu
NM_001135245.1:c.3398C>T	NP_001128717.1:p.Pro1133Leu
NM_001195141.1:c.3512C>T	NP_001182070.1:p.Pro1171Leu
XM_005268502.2:c.3740C>T	XP_005268559.1:p.Pro1247Leu
XM_005268503.2:c.3737C>T	XP_005268560.1:p.Pro1246Leu
XM_005268504.2:c.3737C>T	XP_005268561.1:p.Pro1246Leu
XM_005268505.2:c.3629C>T	XP_005268562.1:p.Pro1210Leu
XM_005268506.2:c.3626C>T	XP_005268563.1:p.Pro1209Leu
XM_005268507.2:c.3509C>T	XP_005268564.1:p.Pro1170Leu
XM_011537678.1:c.3560C>T	XP_011535980.1:p.Pro1187Leu
XR_427778.1:n.3744C>T
XR_427780.1:n.3633C>T
XM_005268502.4:c.3740C>T	XP_005268559.1:p.Pro1247Leu
XM_005268503.4:c.3737C>T	XP_005268560.1:p.Pro1246Leu
XM_005268504.4:c.3737C>T	XP_005268561.1:p.Pro1246Leu
XM_005268505.4:c.3629C>T	XP_005268562.1:p.Pro1210Leu
XM_005268506.4:c.3626C>T	XP_005268563.1:p.Pro1209Leu
XM_005268507.4:c.3509C>T	XP_005268564.1:p.Pro1170Leu
XM_011537678.3:c.3560C>T	XP_011535980.1:p.Pro1187Leu
XM_017009792.2:c.3623C>T	XP_016865281.1:p.Pro1208Leu
XM_017009793.2:c.3449C>T	XP_016865282.1:p.Pro1150Leu
XM_017009794.2:c.3335C>T	XP_016865283.1:p.Pro1112Leu
XR_427778.3:n.3746C>T
XR_427780.3:n.3635C>T
NM_000356.4:c.3395C>T	NP_000347.2:p.Pro1132Leu
NM_001135244.2:c.3515C>T	NP_001128716.1:p.Pro1172Leu
NM_001135245.2:c.3398C>T	NP_001128717.1:p.Pro1133Leu
NM_001195141.2:c.3512C>T	NP_001182070.1:p.Pro1171Leu
NM_001371623.1:c.3629C>T MANE Select	NP_001358552.1:p.Pro1210Leu
NM_001135243.2:c.3626C>T	NP_001128715.1:p.Pro1209Leu