Canonical Allele Identifier: CA6732478
Community Standard Title: NM_001032283.3(TMPO):c.565+2182T>C
Gene: TMPO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.98534020T>C , CM000674.2:g.98534020T>C GRCh38
NC_000012.11:g.98927798T>C , CM000674.1:g.98927798T>C GRCh37
NC_000012.10:g.97451929T>C NCBI36
NG_021393.1:g.23448T>C , LRG_443:g.23448T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001032283.3:c.565+2182T>C MANE Select NP_001027454.1:n.565+2182T>C
ENST00000556029.6:c.565+2182T>C MANE Select ENSP00000450627.1:n.565+2182T>C
NM_001032283.2:c.565+2182T>C , LRG_443t1:c.565+2182T>C NP_001027454.1:n.565+2182T>C
NM_001032284.2:c.565+2182T>C NP_001027455.1:n.565+2182T>C
NM_001032284.3:c.565+2182T>C NP_001027455.1:n.565+2182T>C
NM_001307975.1:c.565+2182T>C NP_001294904.1:n.565+2182T>C
NM_001307975.2:c.565+2182T>C NP_001294904.1:n.565+2182T>C
NM_003276.2:c.1763T>C , LRG_443t2:c.1763T>C NP_003267.1:p.Phe588Ser
ENST00000261210.9:c.565+2182T>C ENSP00000261210.5:n.565+2182T>C
ENST00000266732.8:c.1763T>C ENSP00000266732.4:p.Phe588Ser
ENST00000343315.9:c.565+2182T>C ENSP00000340251.5:n.565+2182T>C
ENST00000393053.6:c.565+2182T>C ENSP00000376773.2:n.565+2182T>C
ENST00000552831.1:n.643+2182T>C
ENST00000556029.5:c.565+2182T>C ENSP00000450627.1:n.565+2182T>C
ENST00000556678.1:c.286+2182T>C ENSP00000451552.1:n.286+2182T>C
XM_005269132.2:c.565+2182T>C XP_005269189.1:n.565+2182T>C
XM_005269132.4:c.565+2182T>C XP_005269189.1:n.565+2182T>C
XM_017019914.2:c.857T>C XP_016875403.1:p.Phe286Ser