Canonical Allele Identifier: CA3177288

Gene: TPPP CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.665991C>T , CM000667.2:g.665991C>T	GRCh38
NC_000005.9:g.666106C>T , CM000667.1:g.666106C>T	GRCh37
NC_000005.8:g.719106C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360578.7:c.444G>A (TPPP) MANE Select	ENSP00000353785.5:p.Ala148=
ENST00000360578.6:c.444G>A (TPPP)	ENSP00000353785.5:p.Ala148=
ENST00000514507.1:n.484C>T (CEP72)
NM_007030.2:c.444G>A (TPPP)	NP_008961.1:p.Ala148=
XM_005248237.2:c.444G>A (TPPP)	XP_005248294.2:p.Ala148=
XM_011514167.1:c.-781+666C>T	XP_011512469.1:n.-781+666C>T
XM_005248237.3:c.444G>A (TPPP)	XP_005248294.2:p.Ala148=
XM_017008993.1:c.645G>A (TPPP)	XP_016864482.1:p.Ala215=
XM_024454346.1:c.444G>A (TPPP)	XP_024310114.1:p.Ala148=
NM_007030.3:c.444G>A (TPPP) MANE Select	NP_008961.1:p.Ala148=
NR_164122.1:n.2594+666C>T (CEP72)