Canonical Allele Identifier: CA378416776
Gene: CASP7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.113697599T>G , CM000672.2:g.113697599T>G GRCh38
NC_000010.10:g.115457358T>G , CM000672.1:g.115457358T>G GRCh37
NC_000010.9:g.115447348T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369318.8:c.106T>G MANE Select ENSP00000358324.4:p.Phe36Val
ENST00000345633.8:c.106T>G ENSP00000298701.7:p.Phe36Val
ENST00000369315.5:c.106T>G ENSP00000358321.1:p.Phe36Val
ENST00000369318.7:c.106T>G ENSP00000358324.3:p.Phe36Val
ENST00000369321.6:c.330T>G ENSP00000358327.3:p.Ser110=
ENST00000369331.8:c.106T>G ENSP00000358337.3:p.Phe36Val
ENST00000429617.5:c.106T>G ENSP00000400094.1:p.Phe36Val
ENST00000614447.4:c.106T>G ENSP00000478285.1:p.Phe36Val
ENST00000621345.4:c.106T>G ENSP00000480584.1:p.Phe36Val
ENST00000621607.4:c.205T>G ENSP00000478999.1:p.Phe69Val
NM_001227.4:c.106T>G NP_001218.1:p.Phe36Val
NM_001267056.1:c.106T>G NP_001253985.1:p.Phe36Val
NM_001267057.1:c.330T>G NP_001253986.1:p.Ser110=
NM_033338.5:c.205T>G NP_203124.1:p.Phe69Val
NM_033339.4:c.106T>G NP_203125.1:p.Phe36Val
NM_033340.3:c.106T>G NP_203126.1:p.Phe36Val
XM_006718017.2:c.117T>G XP_006718080.1:p.Ser39=
XM_006718018.1:c.99T>G XP_006718081.1:p.Ser33=
XM_011540259.1:c.205T>G XP_011538561.1:p.Phe69Val
NM_001320911.1:c.99T>G NP_001307840.1:p.Ser33=
XM_006718017.3:c.117T>G XP_006718080.1:p.Ser39=
XM_017016763.1:c.163T>G XP_016872252.1:p.Phe55Val
XM_017016764.1:c.99T>G XP_016872253.1:p.Ser33=
NM_001227.5:c.106T>G MANE Select NP_001218.1:p.Phe36Val
NM_001320911.2:c.99T>G NP_001307840.1:p.Ser33=
NM_033338.6:c.205T>G NP_203124.1:p.Phe69Val
NM_033339.5:c.106T>G NP_203125.1:p.Phe36Val
NM_033340.4:c.106T>G NP_203126.1:p.Phe36Val
NM_001267056.2:c.106T>G NP_001253985.1:p.Phe36Val