Canonical Allele Identifier: CA3177239

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.665261C>T , CM000667.2:g.665261C>T GRCh38
NC_000005.9:g.665376C>T , CM000667.1:g.665376C>T GRCh37
NC_000005.8:g.718376C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007030.3:c.501G>A (TPPP) MANE Select NP_008961.1:p.Thr167=
ENST00000360578.7:c.501G>A (TPPP) MANE Select ENSP00000353785.5:p.Thr167=
NM_007030.2:c.501G>A (TPPP) NP_008961.1:p.Thr167=
NR_164122.1:n.2530C>T (CEP72)
ENST00000360578.6:c.501G>A (TPPP) ENSP00000353785.5:p.Thr167=
ENST00000514507.1:n.369C>T (CEP72)
XM_005248237.2:c.501G>A (TPPP) XP_005248294.2:p.Thr167=
XM_005248237.3:c.501G>A (TPPP) XP_005248294.2:p.Thr167=
XM_011514167.1:c.-845C>T XP_011512469.1:n.-845C>T
XM_017008993.1:c.702G>A (TPPP) XP_016864482.1:p.Thr234=
XM_024454346.1:c.501G>A (TPPP) XP_024310114.1:p.Thr167=