Canonical Allele Identifier: CA2129277

Gene: CHPF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219539619C>T , CM000664.2:g.219539619C>T	GRCh38
NC_000002.11:g.220404341C>T , CM000664.1:g.220404341C>T	GRCh37
NC_000002.10:g.220112585C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_024536.6:c.2092G>A MANE Select	NP_078812.3:p.Glu698Lys
ENST00000243776.11:c.2092G>A MANE Select	ENSP00000243776.6:p.Glu698Lys
NM_001195731.1:c.1606G>A	NP_001182660.1:p.Glu536Lys
NM_001195731.2:c.1606G>A	NP_001182660.2:p.Glu536Lys
NM_024536.5:c.2092G>A	NP_078812.2:p.Glu698Lys
ENST00000243776.10:c.2092G>A	ENSP00000243776.6:p.Glu698Lys
ENST00000535926.2:c.1606G>A	ENSP00000445571.1:p.Glu536Lys
ENST00000535926.3:c.1606G>A	ENSP00000445571.1:p.Glu536Lys
ENST00000688634.1:c.*1276G>A	ENSP00000509339.1:n.*1276G>A
ENST00000691864.1:c.2068G>A	ENSP00000509104.1:p.Glu690Lys
ENST00000693236.1:n.2639G>A
XM_011511838.1:c.1219G>A	XP_011510140.1:p.Glu407Lys
XM_011511838.3:c.1219G>A	XP_011510140.1:p.Glu407Lys