Canonical Allele Identifier: CA4169321
Community Standard Title: NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=)
Gene: CRPPA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16091787G>A , CM000669.2:g.16091787G>A GRCh38
NC_000007.13:g.16131412G>A , CM000669.1:g.16131412G>A GRCh37
NC_000007.12:g.16097937G>A NCBI36
NG_032690.1:g.334536C>T
NG_032690.2:g.334536C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001101426.4:c.1264C>T MANE Select NP_001094896.1:p.Leu422=
ENST00000407010.7:c.1264C>T MANE Select ENSP00000385478.2:p.Leu422=
NM_001101417.3:c.1114C>T NP_001094887.1:p.Leu372=
NM_001101417.4:c.1114C>T NP_001094887.1:p.Leu372=
NM_001101426.3:c.1264C>T NP_001094896.1:p.Leu422=
NM_001368197.1:c.1159C>T NP_001355126.1:p.Leu387=
NR_160656.1:n.1329C>T
ENST00000399310.3:c.1114C>T ENSP00000382249.3:p.Leu372=
ENST00000407010.6:c.1264C>T ENSP00000385478.2:p.Leu422=
ENST00000675257.1:c.856C>T ENSP00000501664.1:p.Leu286=
ENST00000676325.1:c.961C>T ENSP00000502074.1:p.Leu321=
XM_006715770.2:c.1015C>T XP_006715833.1:p.Leu339=
XM_006715770.3:c.1015C>T XP_006715833.1:p.Leu339=
XM_011515498.1:c.1251+124279C>T XP_011513800.1:n.1251+124279C>T
XM_011515500.1:c.1159C>T XP_011513802.1:p.Leu387=
XM_011515500.2:c.1159C>T XP_011513802.1:p.Leu387=
XM_011515502.1:c.961C>T XP_011513804.1:p.Leu321=
XM_011515503.1:c.961C>T XP_011513805.1:p.Leu321=
XM_011515504.1:c.961C>T XP_011513806.1:p.Leu321=
XM_011515505.1:c.961C>T XP_011513807.1:p.Leu321=
XM_011515506.1:c.961C>T XP_011513808.1:p.Leu321=
XM_011515507.1:c.961C>T XP_011513809.1:p.Leu321=
XM_011515508.1:c.961C>T XP_011513810.1:p.Leu321=
XM_011515508.2:c.961C>T XP_011513810.1:p.Leu321=
XM_011515509.1:c.961C>T XP_011513811.1:p.Leu321=
XM_011515509.2:c.961C>T XP_011513811.1:p.Leu321=
XM_017012577.1:c.628C>T XP_016868066.1:p.Leu210=
XM_017012578.1:c.628C>T XP_016868067.1:p.Leu210=
XM_024446909.1:c.961C>T XP_024302677.1:p.Leu321=
XM_024446910.1:c.961C>T XP_024302678.1:p.Leu321=
XM_024446911.1:c.856C>T XP_024302679.1:p.Leu286=
XR_001744868.1:n.1272C>T