Canonical Allele Identifier: CA378416296
Gene: CASP7 HGNC NCBI
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113697518G>A , CM000672.2:g.113697518G>A GRCh38
NC_000010.10:g.115457277G>A , CM000672.1:g.115457277G>A GRCh37
NC_000010.9:g.115447267G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369318.8:c.25G>A MANE Select ENSP00000358324.4:p.Glu9Lys
ENST00000345633.8:c.25G>A ENSP00000298701.7:p.Glu9Lys
ENST00000369315.5:c.25G>A ENSP00000358321.1:p.Glu9Lys
ENST00000369318.7:c.25G>A ENSP00000358324.3:p.Glu9Lys
ENST00000369321.6:c.249G>A ENSP00000358327.3:p.Leu83=
ENST00000369331.8:c.25G>A ENSP00000358337.3:p.Glu9Lys
ENST00000429617.5:c.25G>A ENSP00000400094.1:p.Glu9Lys
ENST00000614447.4:c.25G>A ENSP00000478285.1:p.Glu9Lys
ENST00000621345.4:c.25G>A ENSP00000480584.1:p.Glu9Lys
ENST00000621607.4:c.124G>A ENSP00000478999.1:p.Glu42Lys
NM_001227.4:c.25G>A NP_001218.1:p.Glu9Lys
NM_001267056.1:c.25G>A NP_001253985.1:p.Glu9Lys
NM_001267057.1:c.249G>A NP_001253986.1:p.Leu83=
NM_033338.5:c.124G>A NP_203124.1:p.Glu42Lys
NM_033339.4:c.25G>A NP_203125.1:p.Glu9Lys
NM_033340.3:c.25G>A NP_203126.1:p.Glu9Lys
XM_006718017.2:c.36G>A XP_006718080.1:p.Leu12=
XM_006718018.1:c.18G>A XP_006718081.1:p.Leu6=
XM_011540259.1:c.124G>A XP_011538561.1:p.Glu42Lys
NM_001320911.1:c.18G>A NP_001307840.1:p.Leu6=
XM_006718017.3:c.36G>A XP_006718080.1:p.Leu12=
XM_017016763.1:c.82G>A XP_016872252.1:p.Glu28Lys
XM_017016764.1:c.18G>A XP_016872253.1:p.Leu6=
NM_001227.5:c.25G>A MANE Select NP_001218.1:p.Glu9Lys
NM_001320911.2:c.18G>A NP_001307840.1:p.Leu6=
NM_033338.6:c.124G>A NP_203124.1:p.Glu42Lys
NM_033339.5:c.25G>A NP_203125.1:p.Glu9Lys
NM_033340.4:c.25G>A NP_203126.1:p.Glu9Lys
NM_001267056.2:c.25G>A NP_001253985.1:p.Glu9Lys