Canonical Allele Identifier: CA378425959
Gene: CASP7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113729393C>A , CM000672.2:g.113729393C>A GRCh38
NC_000010.10:g.115489152C>A , CM000672.1:g.115489152C>A GRCh37
NC_000010.9:g.115479142C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001227.5:c.765C>A MANE Select NP_001218.1:p.Asp255Glu
ENST00000369318.8:c.765C>A MANE Select ENSP00000358324.4:p.Asp255Glu
NM_001227.4:c.765C>A NP_001218.1:p.Asp255Glu
NM_001267056.1:c.765C>A NP_001253985.1:p.Asp255Glu
NM_001267056.2:c.765C>A NP_001253985.1:p.Asp255Glu
NM_001267057.1:c.1020C>A NP_001253986.1:p.Asp340Glu
NM_001267058.1:c.690C>A NP_001253987.1:p.Asp230Glu
NM_001267058.2:c.690C>A NP_001253987.1:p.Asp230Glu
NM_001320911.1:c.789C>A NP_001307840.1:p.Asp263Glu
NM_001320911.2:c.789C>A NP_001307840.1:p.Asp263Glu
NM_033338.5:c.864C>A NP_203124.1:p.Asp288Glu
NM_033338.6:c.864C>A NP_203124.1:p.Asp288Glu
NM_033339.4:c.765C>A NP_203125.1:p.Asp255Glu
NM_033339.5:c.765C>A NP_203125.1:p.Asp255Glu
NM_033340.3:c.731C>A NP_203126.1:p.Thr244Asn
NM_033340.4:c.731C>A NP_203126.1:p.Thr244Asn
ENST00000345633.8:c.765C>A ENSP00000298701.7:p.Asp255Glu
ENST00000369315.5:c.765C>A ENSP00000358321.1:p.Asp255Glu
ENST00000369318.7:c.765C>A ENSP00000358324.3:p.Asp255Glu
ENST00000369321.6:c.1020C>A ENSP00000358327.3:p.Asp340Glu
ENST00000369331.8:c.731C>A ENSP00000358337.3:p.Thr244Asn
ENST00000452490.3:c.690C>A ENSP00000398107.2:p.Asp230Glu
ENST00000487232.1:n.689C>A
ENST00000614447.4:c.731C>A ENSP00000478285.1:p.Thr244Asn
ENST00000621345.4:c.765C>A ENSP00000480584.1:p.Asp255Glu
ENST00000621607.4:c.864C>A ENSP00000478999.1:p.Asp288Glu
ENST00000672138.1:c.762C>A ENSP00000500735.1:p.Asp254Glu
XM_006718017.2:c.807C>A XP_006718080.1:p.Asp269Glu
XM_006718017.3:c.807C>A XP_006718080.1:p.Asp269Glu
XM_006718018.1:c.789C>A XP_006718081.1:p.Asp263Glu
XM_011540259.1:c.864C>A XP_011538561.1:p.Asp288Glu
XM_011540260.1:c.666C>A XP_011538562.1:p.Asp222Glu
XM_017016763.1:c.822C>A XP_016872252.1:p.Asp274Glu
XM_017016764.1:c.789C>A XP_016872253.1:p.Asp263Glu