Canonical Allele Identifier: CA361739360

Gene: TCOF1

Linked Data

• MyVariant Identifiers: chr5:g.149772996C>G (hg19) ; chr5:g.150393433C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000427724.7:c.3548C>G	ENSP00000390717.3:p.Ala1183Gly
ENST00000643257.2:c.3665C>G MANE Select	ENSP00000493815.1:p.Ala1222Gly
ENST00000650162.1:c.3320C>G	ENSP00000497075.1:p.Ala1107Gly
ENST00000674413.1:c.3064C>G
ENST00000323668.11:c.3431C>G	ENSP00000325223.6:p.Ala1144Gly
ENST00000377797.7:c.3662C>G	ENSP00000367028.4:p.Ala1221Gly
ENST00000427724.6:c.3548C>G	ENSP00000390717.2:p.Ala1183Gly
ENST00000439160.6:c.3551C>G	ENSP00000406888.2:p.Ala1184Gly
ENST00000445265.6:c.3434C>G	ENSP00000409944.2:p.Ala1145Gly
ENST00000504761.6:c.3662C>G	ENSP00000421655.2:p.Ala1221Gly
ENST00000513346.5:c.3662C>G	ENSP00000427484.1:p.Ala1221Gly
ENST00000514442.5:n.3712C>G
ENST00000515516.1:c.343-3310C>G	ENSP00000426471.1:n.343-3310C>G
NM_000356.3:c.3431C>G	NP_000347.2:p.Ala1144Gly
NM_001135243.1:c.3662C>G	NP_001128715.1:p.Ala1221Gly
NM_001135244.1:c.3551C>G	NP_001128716.1:p.Ala1184Gly
NM_001135245.1:c.3434C>G	NP_001128717.1:p.Ala1145Gly
NM_001195141.1:c.3548C>G	NP_001182070.1:p.Ala1183Gly
XM_005268502.2:c.3776C>G	XP_005268559.1:p.Ala1259Gly
XM_005268503.2:c.3773C>G	XP_005268560.1:p.Ala1258Gly
XM_005268504.2:c.3773C>G	XP_005268561.1:p.Ala1258Gly
XM_005268505.2:c.3665C>G	XP_005268562.1:p.Ala1222Gly
XM_005268506.2:c.3662C>G	XP_005268563.1:p.Ala1221Gly
XM_005268507.2:c.3545C>G	XP_005268564.1:p.Ala1182Gly
XM_011537678.1:c.3596C>G	XP_011535980.1:p.Ala1199Gly
XR_427778.1:n.3780C>G
XR_427780.1:n.3669C>G
XM_005268502.4:c.3776C>G	XP_005268559.1:p.Ala1259Gly
XM_005268503.4:c.3773C>G	XP_005268560.1:p.Ala1258Gly
XM_005268504.4:c.3773C>G	XP_005268561.1:p.Ala1258Gly
XM_005268505.4:c.3665C>G	XP_005268562.1:p.Ala1222Gly
XM_005268506.4:c.3662C>G	XP_005268563.1:p.Ala1221Gly
XM_005268507.4:c.3545C>G	XP_005268564.1:p.Ala1182Gly
XM_011537678.3:c.3596C>G	XP_011535980.1:p.Ala1199Gly
XM_017009792.2:c.3659C>G	XP_016865281.1:p.Ala1220Gly
XM_017009793.2:c.3485C>G	XP_016865282.1:p.Ala1162Gly
XM_017009794.2:c.3371C>G	XP_016865283.1:p.Ala1124Gly
XR_427778.3:n.3782C>G
XR_427780.3:n.3671C>G
NM_000356.4:c.3431C>G	NP_000347.2:p.Ala1144Gly
NM_001135244.2:c.3551C>G	NP_001128716.1:p.Ala1184Gly
NM_001135245.2:c.3434C>G	NP_001128717.1:p.Ala1145Gly
NM_001195141.2:c.3548C>G	NP_001182070.1:p.Ala1183Gly
NM_001371623.1:c.3665C>G MANE Select	NP_001358552.1:p.Ala1222Gly
NM_001135243.2:c.3662C>G	NP_001128715.1:p.Ala1221Gly