Canonical Allele Identifier: CA386152247
Gene: TMPO HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98533252G>A , CM000674.2:g.98533252G>A GRCh38
NC_000012.11:g.98927030G>A , CM000674.1:g.98927030G>A GRCh37
NC_000012.10:g.97451161G>A NCBI36
NG_021393.1:g.22680G>A , LRG_443:g.22680G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000556029.6:c.565+1414G>A MANE Select ENSP00000450627.1:n.565+1414G>A
ENST00000261210.9:c.565+1414G>A ENSP00000261210.5:n.565+1414G>A
ENST00000266732.8:c.995G>A ENSP00000266732.4:p.Arg332Lys
ENST00000343315.9:c.565+1414G>A ENSP00000340251.5:n.565+1414G>A
ENST00000393053.6:c.565+1414G>A ENSP00000376773.2:n.565+1414G>A
ENST00000552831.1:n.643+1414G>A
ENST00000556029.5:c.565+1414G>A ENSP00000450627.1:n.565+1414G>A
ENST00000556678.1:c.286+1414G>A ENSP00000451552.1:n.286+1414G>A
NM_001032283.2:c.565+1414G>A , LRG_443t1:c.565+1414G>A NP_001027454.1:n.565+1414G>A
NM_001032284.2:c.565+1414G>A NP_001027455.1:n.565+1414G>A
NM_001307975.1:c.565+1414G>A NP_001294904.1:n.565+1414G>A
NM_003276.2:c.995G>A , LRG_443t2:c.995G>A NP_003267.1:p.Arg332Lys
XM_005269132.2:c.565+1414G>A XP_005269189.1:n.565+1414G>A
XM_005269132.4:c.565+1414G>A XP_005269189.1:n.565+1414G>A
XM_017019914.2:c.89G>A XP_016875403.1:p.Arg30Lys
NM_001032283.3:c.565+1414G>A MANE Select NP_001027454.1:n.565+1414G>A
NM_001032284.3:c.565+1414G>A NP_001027455.1:n.565+1414G>A
NM_001307975.2:c.565+1414G>A NP_001294904.1:n.565+1414G>A