Canonical Allele Identifier: CA12018850
Gene: TPPP HGNC NCBI
gnomAD v2:
gnomAD v3:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.674806C>T , CM000667.2:g.674806C>T GRCh38
NC_000005.9:g.674921C>T , CM000667.1:g.674921C>T GRCh37
NC_000005.8:g.727921C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360578.7:c.311+2944G>A MANE Select ENSP00000353785.5:n.311+2944G>A
ENST00000360578.6:c.311+2944G>A ENSP00000353785.5:n.311+2944G>A
NM_007030.2:c.311+2944G>A NP_008961.1:n.311+2944G>A
XM_005248237.2:c.311+2944G>A XP_005248294.2:n.311+2944G>A
XM_005248237.3:c.311+2944G>A XP_005248294.2:n.311+2944G>A
XM_017008993.1:c.512+2944G>A XP_016864482.1:n.512+2944G>A
XM_024454346.1:c.311+2944G>A XP_024310114.1:n.311+2944G>A
NM_007030.3:c.311+2944G>A MANE Select NP_008961.1:n.311+2944G>A