Canonical Allele Identifier: CA3511572

Gene: TCOF1

Linked Data

• ClinVar Variation Id: 2047883
• ClinVar RCV Id: RCV002918378
• dbSNP Id: rs746397186
• ExAC: 5:149772989 T / C
• gnomAD v2: 5-149772989-T-C
• gnomAD v3: 5-150393426-T-C
• gnomAD v4: 5-150393426-T-C
• MyVariant Identifiers: chr5:g.149772989T>C (hg19) ; chr5:g.150393426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.150393426T>C , CM000667.2:g.150393426T>C	GRCh38
NC_000005.9:g.149772989T>C , CM000667.1:g.149772989T>C	GRCh37
NC_000005.8:g.149753182T>C	NCBI36
NG_011341.1:g.40788T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000427724.7:c.3541T>C	ENSP00000390717.3:p.Ser1181Pro
ENST00000643257.2:c.3658T>C MANE Select	ENSP00000493815.1:p.Ser1220Pro
ENST00000650162.1:c.3313T>C	ENSP00000497075.1:p.Ser1105Pro
ENST00000674413.1:c.3057T>C
ENST00000323668.11:c.3424T>C	ENSP00000325223.6:p.Ser1142Pro
ENST00000377797.7:c.3655T>C	ENSP00000367028.4:p.Ser1219Pro
ENST00000427724.6:c.3541T>C	ENSP00000390717.2:p.Ser1181Pro
ENST00000439160.6:c.3544T>C	ENSP00000406888.2:p.Ser1182Pro
ENST00000445265.6:c.3427T>C	ENSP00000409944.2:p.Ser1143Pro
ENST00000504761.6:c.3655T>C	ENSP00000421655.2:p.Ser1219Pro
ENST00000513346.5:c.3655T>C	ENSP00000427484.1:p.Ser1219Pro
ENST00000514442.5:n.3705T>C
ENST00000515516.1:c.343-3317T>C	ENSP00000426471.1:n.343-3317T>C
NM_000356.3:c.3424T>C	NP_000347.2:p.Ser1142Pro
NM_001135243.1:c.3655T>C	NP_001128715.1:p.Ser1219Pro
NM_001135244.1:c.3544T>C	NP_001128716.1:p.Ser1182Pro
NM_001135245.1:c.3427T>C	NP_001128717.1:p.Ser1143Pro
NM_001195141.1:c.3541T>C	NP_001182070.1:p.Ser1181Pro
XM_005268502.2:c.3769T>C	XP_005268559.1:p.Ser1257Pro
XM_005268503.2:c.3766T>C	XP_005268560.1:p.Ser1256Pro
XM_005268504.2:c.3766T>C	XP_005268561.1:p.Ser1256Pro
XM_005268505.2:c.3658T>C	XP_005268562.1:p.Ser1220Pro
XM_005268506.2:c.3655T>C	XP_005268563.1:p.Ser1219Pro
XM_005268507.2:c.3538T>C	XP_005268564.1:p.Ser1180Pro
XM_011537678.1:c.3589T>C	XP_011535980.1:p.Ser1197Pro
XR_427778.1:n.3773T>C
XR_427780.1:n.3662T>C
XM_005268502.4:c.3769T>C	XP_005268559.1:p.Ser1257Pro
XM_005268503.4:c.3766T>C	XP_005268560.1:p.Ser1256Pro
XM_005268504.4:c.3766T>C	XP_005268561.1:p.Ser1256Pro
XM_005268505.4:c.3658T>C	XP_005268562.1:p.Ser1220Pro
XM_005268506.4:c.3655T>C	XP_005268563.1:p.Ser1219Pro
XM_005268507.4:c.3538T>C	XP_005268564.1:p.Ser1180Pro
XM_011537678.3:c.3589T>C	XP_011535980.1:p.Ser1197Pro
XM_017009792.2:c.3652T>C	XP_016865281.1:p.Ser1218Pro
XM_017009793.2:c.3478T>C	XP_016865282.1:p.Ser1160Pro
XM_017009794.2:c.3364T>C	XP_016865283.1:p.Ser1122Pro
XR_427778.3:n.3775T>C
XR_427780.3:n.3664T>C
NM_000356.4:c.3424T>C	NP_000347.2:p.Ser1142Pro
NM_001135244.2:c.3544T>C	NP_001128716.1:p.Ser1182Pro
NM_001135245.2:c.3427T>C	NP_001128717.1:p.Ser1143Pro
NM_001195141.2:c.3541T>C	NP_001182070.1:p.Ser1181Pro
NM_001371623.1:c.3658T>C MANE Select	NP_001358552.1:p.Ser1220Pro
NM_001135243.2:c.3655T>C	NP_001128715.1:p.Ser1219Pro