Canonical Allele Identifier: CA2129272

Gene: CHPF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219539613C>T , CM000664.2:g.219539613C>T	GRCh38
NC_000002.11:g.220404335C>T , CM000664.1:g.220404335C>T	GRCh37
NC_000002.10:g.220112579C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535926.3:c.1612G>A	ENSP00000445571.1:p.Glu538Lys
ENST00000688634.1:c.*1282G>A	ENSP00000509339.1:n.*1282G>A
ENST00000691864.1:c.2074G>A	ENSP00000509104.1:p.Glu692Lys
ENST00000693236.1:n.2645G>A
ENST00000243776.11:c.2098G>A MANE Select	ENSP00000243776.6:p.Glu700Lys
ENST00000243776.10:c.2098G>A	ENSP00000243776.6:p.Glu700Lys
ENST00000535926.2:c.1612G>A	ENSP00000445571.1:p.Glu538Lys
NM_001195731.1:c.1612G>A	NP_001182660.1:p.Glu538Lys
NM_024536.5:c.2098G>A	NP_078812.2:p.Glu700Lys
XM_011511838.1:c.1225G>A	XP_011510140.1:p.Glu409Lys
XM_011511838.3:c.1225G>A	XP_011510140.1:p.Glu409Lys
NM_024536.6:c.2098G>A MANE Select	NP_078812.3:p.Glu700Lys
NM_001195731.2:c.1612G>A	NP_001182660.2:p.Glu538Lys