Canonical Allele Identifier: CA367000232
Community Standard Title: NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg)
Gene: CRPPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16091697A>G , CM000669.2:g.16091697A>G GRCh38
NC_000007.13:g.16131322A>G , CM000669.1:g.16131322A>G GRCh37
NC_000007.12:g.16097847A>G NCBI36
NG_032690.1:g.334626T>C
NG_032690.2:g.334626T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001101426.4:c.1354T>C MANE Select NP_001094896.1:p.Ter452Arg
ENST00000407010.7:c.1354T>C MANE Select ENSP00000385478.2:p.Ter452Arg
NM_001101417.3:c.1204T>C NP_001094887.1:p.Ter402Arg
NM_001101417.4:c.1204T>C NP_001094887.1:p.Ter402Arg
NM_001101426.3:c.1354T>C NP_001094896.1:p.Ter452Arg
NM_001368197.1:c.1249T>C NP_001355126.1:p.Ter417Arg
NR_160656.1:n.1419T>C
ENST00000399310.3:c.1204T>C ENSP00000382249.3:p.Ter402Arg
ENST00000407010.6:c.1354T>C ENSP00000385478.2:p.Ter452Arg
ENST00000675257.1:c.946T>C ENSP00000501664.1:p.Ter316Arg
ENST00000676325.1:c.1051T>C ENSP00000502074.1:p.Ter351Arg
XM_006715770.2:c.1105T>C XP_006715833.1:p.Ter369Arg
XM_006715770.3:c.1105T>C XP_006715833.1:p.Ter369Arg
XM_011515498.1:c.1251+124369T>C XP_011513800.1:n.1251+124369T>C
XM_011515500.1:c.1249T>C XP_011513802.1:p.Ter417Arg
XM_011515500.2:c.1249T>C XP_011513802.1:p.Ter417Arg
XM_011515502.1:c.1051T>C XP_011513804.1:p.Ter351Arg
XM_011515503.1:c.1051T>C XP_011513805.1:p.Ter351Arg
XM_011515504.1:c.1051T>C XP_011513806.1:p.Ter351Arg
XM_011515505.1:c.1051T>C XP_011513807.1:p.Ter351Arg
XM_011515506.1:c.1051T>C XP_011513808.1:p.Ter351Arg
XM_011515507.1:c.1051T>C XP_011513809.1:p.Ter351Arg
XM_011515508.1:c.1051T>C XP_011513810.1:p.Ter351Arg
XM_011515508.2:c.1051T>C XP_011513810.1:p.Ter351Arg
XM_011515509.1:c.1051T>C XP_011513811.1:p.Ter351Arg
XM_011515509.2:c.1051T>C XP_011513811.1:p.Ter351Arg
XM_017012577.1:c.718T>C XP_016868066.1:p.Ter240Arg
XM_017012578.1:c.718T>C XP_016868067.1:p.Ter240Arg
XM_024446909.1:c.1051T>C XP_024302677.1:p.Ter351Arg
XM_024446910.1:c.1051T>C XP_024302678.1:p.Ter351Arg
XM_024446911.1:c.946T>C XP_024302679.1:p.Ter316Arg
XR_001744868.1:n.1362T>C