Canonical Allele Identifier: CA260031
Community Standard Title: NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)
Gene: CRPPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16301454G>A , CM000669.2:g.16301454G>A GRCh38
NC_000007.13:g.16341079G>A , CM000669.1:g.16341079G>A GRCh37
NC_000007.12:g.16307604G>A NCBI36
NG_032690.1:g.124869C>T
NG_032690.2:g.124869C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001101426.4:c.802C>T MANE Select NP_001094896.1:p.Arg268Ter
ENST00000407010.7:c.802C>T MANE Select ENSP00000385478.2:p.Arg268Ter
NM_001101417.3:c.652C>T NP_001094887.1:p.Arg218Ter
NM_001101417.4:c.652C>T NP_001094887.1:p.Arg218Ter
NM_001101426.3:c.802C>T NP_001094896.1:p.Arg268Ter
NM_001368197.1:c.697C>T NP_001355126.1:p.Arg233Ter
NR_160656.1:n.901-23228C>T
ENST00000399310.3:c.652C>T ENSP00000382249.3:p.Arg218Ter
ENST00000407010.6:c.802C>T ENSP00000385478.2:p.Arg268Ter
ENST00000479493.1:n.13C>T
ENST00000674759.1:c.499C>T ENSP00000502749.1:p.Arg167Ter
ENST00000675257.1:c.394C>T ENSP00000501664.1:p.Arg132Ter
ENST00000676325.1:c.499C>T ENSP00000502074.1:p.Arg167Ter
XM_006715770.2:c.553C>T XP_006715833.1:p.Arg185Ter
XM_006715770.3:c.553C>T XP_006715833.1:p.Arg185Ter
XM_011515497.1:c.802C>T XP_011513799.1:p.Arg268Ter
XM_011515498.1:c.802C>T XP_011513800.1:p.Arg268Ter
XM_011515499.1:c.802C>T XP_011513801.1:p.Arg268Ter
XM_011515499.2:c.802C>T XP_011513801.1:p.Arg268Ter
XM_011515500.1:c.697C>T XP_011513802.1:p.Arg233Ter
XM_011515500.2:c.697C>T XP_011513802.1:p.Arg233Ter
XM_011515501.1:c.802C>T XP_011513803.1:p.Arg268Ter
XM_011515501.2:c.802C>T XP_011513803.1:p.Arg268Ter
XM_011515502.1:c.499C>T XP_011513804.1:p.Arg167Ter
XM_011515503.1:c.499C>T XP_011513805.1:p.Arg167Ter
XM_011515504.1:c.499C>T XP_011513806.1:p.Arg167Ter
XM_011515505.1:c.499C>T XP_011513807.1:p.Arg167Ter
XM_011515506.1:c.499C>T XP_011513808.1:p.Arg167Ter
XM_011515507.1:c.499C>T XP_011513809.1:p.Arg167Ter
XM_011515508.1:c.499C>T XP_011513810.1:p.Arg167Ter
XM_011515508.2:c.499C>T XP_011513810.1:p.Arg167Ter
XM_011515509.1:c.499C>T XP_011513811.1:p.Arg167Ter
XM_011515509.2:c.499C>T XP_011513811.1:p.Arg167Ter
XM_011515511.1:c.685-23228C>T XP_011513813.1:n.685-23228C>T
XM_017012575.1:c.802C>T XP_016868064.1:p.Arg268Ter
XM_017012576.1:c.802C>T XP_016868065.1:p.Arg268Ter
XM_017012577.1:c.166C>T XP_016868066.1:p.Arg56Ter
XM_017012578.1:c.166C>T XP_016868067.1:p.Arg56Ter
XM_024446909.1:c.499C>T XP_024302677.1:p.Arg167Ter
XM_024446910.1:c.499C>T XP_024302678.1:p.Arg167Ter
XM_024446911.1:c.394C>T XP_024302679.1:p.Arg132Ter
XM_024446912.1:c.553C>T XP_024302680.1:p.Arg185Ter
XR_001744864.1:n.940+7069C>T
XR_001744865.1:n.948+7069C>T
XR_001744866.1:n.1043C>T
XR_001744867.1:n.1034+7069C>T
XR_001744868.1:n.844-23228C>T