Canonical Allele Identifier: CA3177314

Gene: TPPP CEP72

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.666079G>C , CM000667.2:g.666079G>C	GRCh38
NC_000005.9:g.666194G>C , CM000667.1:g.666194G>C	GRCh37
NC_000005.8:g.719194G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360578.7:c.356C>G (TPPP) MANE Select	ENSP00000353785.5:p.Ala119Gly
ENST00000360578.6:c.356C>G (TPPP)	ENSP00000353785.5:p.Ala119Gly
ENST00000514507.1:n.572G>C (CEP72)
NM_007030.2:c.356C>G (TPPP)	NP_008961.1:p.Ala119Gly
XM_005248237.2:c.356C>G (TPPP)	XP_005248294.2:p.Ala119Gly
XM_011514167.1:c.-781+754G>C	XP_011512469.1:n.-781+754G>C
XM_005248237.3:c.356C>G (TPPP)	XP_005248294.2:p.Ala119Gly
XM_017008993.1:c.557C>G (TPPP)	XP_016864482.1:p.Ala186Gly
XM_017010126.1:c.-801G>C	XP_016865615.1:n.-801G>C
XM_024454346.1:c.356C>G (TPPP)	XP_024310114.1:p.Ala119Gly
NM_007030.3:c.356C>G (TPPP) MANE Select	NP_008961.1:p.Ala119Gly
NR_164122.1:n.2594+754G>C (CEP72)