Canonical Allele Identifier: CA361743918

Gene: TCOF1

Linked Data

• dbSNP Id: rs75181211
• gnomAD v2: 5-149754229-C-G
• gnomAD v4: 5-150374666-C-G
• MyVariant Identifiers: chr5:g.149754229C>G (hg19) ; chr5:g.150374666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150374666C>G , CM000667.2:g.150374666C>G	GRCh38
NC_000005.9:g.149754229C>G , CM000667.1:g.149754229C>G	GRCh37
NC_000005.8:g.149734422C>G	NCBI36
NG_011341.1:g.22028C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427724.7:c.1133C>G	ENSP00000390717.3:p.Ala378Gly
ENST00000513538.2:c.1133C>G	ENSP00000422567.2:p.Ala378Gly
ENST00000643257.2:c.1133C>G MANE Select	ENSP00000493815.1:p.Ala378Gly
ENST00000646961.1:c.689C>G	ENSP00000496754.1:p.Ala230Gly
ENST00000650162.1:c.902C>G	ENSP00000497075.1:p.Ala301Gly
ENST00000674413.1:c.421C>G
ENST00000323668.11:c.902C>G	ENSP00000325223.6:p.Ala301Gly
ENST00000377797.7:c.1133C>G	ENSP00000367028.4:p.Ala378Gly
ENST00000394269.7:c.1133C>G	ENSP00000377811.3:p.Ala378Gly
ENST00000427724.6:c.1133C>G	ENSP00000390717.2:p.Ala378Gly
ENST00000439160.6:c.1133C>G	ENSP00000406888.2:p.Ala378Gly
ENST00000445265.6:c.902C>G	ENSP00000409944.2:p.Ala301Gly
ENST00000504761.6:c.1133C>G	ENSP00000421655.2:p.Ala378Gly
ENST00000513346.5:c.1133C>G	ENSP00000427484.1:p.Ala378Gly
ENST00000515035.5:n.1898C>G
ENST00000515516.1:c.342+6749C>G	ENSP00000426471.1:n.342+6749C>G
NM_000356.3:c.902C>G	NP_000347.2:p.Ala301Gly
NM_001008657.2:c.1133C>G	NP_001008657.1:p.Ala378Gly
NM_001135243.1:c.1133C>G	NP_001128715.1:p.Ala378Gly
NM_001135244.1:c.1133C>G	NP_001128716.1:p.Ala378Gly
NM_001135245.1:c.902C>G	NP_001128717.1:p.Ala301Gly
NM_001195141.1:c.1133C>G	NP_001182070.1:p.Ala378Gly
XM_005268502.2:c.1133C>G	XP_005268559.1:p.Ala378Gly
XM_005268503.2:c.1133C>G	XP_005268560.1:p.Ala378Gly
XM_005268504.2:c.1133C>G	XP_005268561.1:p.Ala378Gly
XM_005268505.2:c.1133C>G	XP_005268562.1:p.Ala378Gly
XM_005268506.2:c.1133C>G	XP_005268563.1:p.Ala378Gly
XM_005268507.2:c.902C>G	XP_005268564.1:p.Ala301Gly
XM_005268508.2:c.1133C>G	XP_005268565.1:p.Ala378Gly
XM_005268509.2:c.1133C>G	XP_005268566.1:p.Ala378Gly
XM_011537678.1:c.1133C>G	XP_011535980.1:p.Ala378Gly
XR_427778.1:n.1178C>G
XR_427779.1:n.1178C>G
XR_427780.1:n.1178C>G
XM_005268502.4:c.1133C>G	XP_005268559.1:p.Ala378Gly
XM_005268503.4:c.1133C>G	XP_005268560.1:p.Ala378Gly
XM_005268504.4:c.1133C>G	XP_005268561.1:p.Ala378Gly
XM_005268505.4:c.1133C>G	XP_005268562.1:p.Ala378Gly
XM_005268506.4:c.1133C>G	XP_005268563.1:p.Ala378Gly
XM_005268507.4:c.902C>G	XP_005268564.1:p.Ala301Gly
XM_005268508.4:c.1133C>G	XP_005268565.1:p.Ala378Gly
XM_005268509.4:c.1133C>G	XP_005268566.1:p.Ala378Gly
XM_011537678.3:c.1133C>G	XP_011535980.1:p.Ala378Gly
XM_017009792.2:c.1133C>G	XP_016865281.1:p.Ala378Gly
XM_017009793.2:c.1133C>G	XP_016865282.1:p.Ala378Gly
XM_017009794.2:c.1133C>G	XP_016865283.1:p.Ala378Gly
XM_017009795.2:c.902C>G	XP_016865284.1:p.Ala301Gly
XR_427778.3:n.1180C>G
XR_427779.2:n.1180C>G
XR_427780.3:n.1180C>G
NM_000356.4:c.902C>G	NP_000347.2:p.Ala301Gly
NM_001008657.3:c.1133C>G	NP_001008657.1:p.Ala378Gly
NM_001135244.2:c.1133C>G	NP_001128716.1:p.Ala378Gly
NM_001135245.2:c.902C>G	NP_001128717.1:p.Ala301Gly
NM_001195141.2:c.1133C>G	NP_001182070.1:p.Ala378Gly
NM_001371623.1:c.1133C>G MANE Select	NP_001358552.1:p.Ala378Gly
NM_001135243.2:c.1133C>G	NP_001128715.1:p.Ala378Gly