Canonical Allele Identifier: CA8131817

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69121109G>A , CM000678.2:g.69121109G>A GRCh38
NC_000016.9:g.69155012G>A , CM000678.1:g.69155012G>A GRCh37
NC_000016.8:g.67712513G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001002847.4:c.-222+327C>T (DERPC) MANE Select NP_001002847.1:n.-222+327C>T
NM_001039690.5:c.85C>T (CHTF8) MANE Select NP_001034779.1:p.Arg29Cys
ENST00000448552.7:c.85C>T (CHTF8) MANE Select ENSP00000408367.3:p.Arg29Cys
ENST00000519520.7:c.-222+327C>T (DERPC) MANE Select ENSP00000427718.2:n.-222+327C>T
NM_001002847.3:c.-222+327C>T (DERPC) NP_001002847.1:n.-222+327C>T
NM_001039690.3:c.85C>T (CHTF8) NP_001034779.1:p.Arg29Cys
NM_001039690.4:c.85C>T (CHTF8) NP_001034779.1:p.Arg29Cys
NM_001040144.2:c.-278C>T (DERPC) NP_001035234.2:n.-278C>T
NM_001040144.3:c.-278C>T (DERPC) NP_001035234.2:n.-278C>T
NM_001040146.3:c.85C>T (CHTF8) NP_001035236.1:p.Arg29Cys
NM_001040146.4:c.85C>T (CHTF8) NP_001035236.1:p.Arg29Cys
NM_001040146.5:c.85C>T (CHTF8) NP_001035236.1:p.Arg29Cys
NM_001366602.1:c.-278C>T (DERPC) NP_001353531.1:n.-278C>T
NM_001366602.2:c.-278C>T (DERPC) NP_001353531.1:n.-278C>T
NM_001366603.1:c.-221-460C>T (DERPC) NP_001353532.1:n.-221-460C>T
NM_001366603.2:c.-221-460C>T (DERPC) NP_001353532.1:n.-221-460C>T
NM_001366604.1:c.-222+327C>T (DERPC) NP_001353533.1:n.-222+327C>T
NM_001366604.2:c.-222+327C>T (DERPC) NP_001353533.1:n.-222+327C>T
NM_001366605.1:c.-222+327C>T (DERPC) NP_001353534.1:n.-222+327C>T
NM_001366605.2:c.-222+327C>T (DERPC) NP_001353534.1:n.-222+327C>T
NM_001366606.1:c.-222+327C>T (DERPC) NP_001353535.1:n.-222+327C>T
NM_001366606.2:c.-222+327C>T (DERPC) NP_001353535.1:n.-222+327C>T
NR_033227.1:n.169C>T (CHTF8)
ENST00000306585.9:c.-222+327C>T (DERPC) ENSP00000305687.6:n.-222+327C>T
ENST00000398235.6:c.85C>T (CHTF8) ENSP00000381290.2:p.Arg29Cys
ENST00000448552.6:c.85C>T (CHTF8) ENSP00000408367.2:p.Arg29Cys
ENST00000518041.5:c.85C>T (CHTF8) ENSP00000430079.1:p.Arg29Cys
ENST00000519520.5:c.23+327C>T (CHTF8) ENSP00000427718.1:n.23+327C>T
ENST00000519520.6:c.-222+327C>T (DERPC) ENSP00000427718.2:n.-222+327C>T
ENST00000520529.5:c.23+327C>T (CHTF8) ENSP00000427728.1:n.23+327C>T
ENST00000522091.1:c.85C>T (CHTF8) ENSP00000455699.1:p.Arg29Cys
ENST00000522497.1:c.152C>T (CHTF8)
ENST00000523421.5:c.85C>T (CHTF8) ENSP00000430899.1:p.Arg29Cys
ENST00000567763.1:c.90-460C>T (CHTF8)
XM_011523167.1:c.-222+327C>T (CHTF8) XP_011521469.1:n.-222+327C>T
XM_011523168.1:c.-222+327C>T (CHTF8) XP_011521470.1:n.-222+327C>T
XM_011523168.2:c.-222+327C>T (CHTF8) XP_011521470.1:n.-222+327C>T
XR_933347.1:n.215C>T (CHTF8)