Canonical Allele Identifier: CA4169452
Gene: CRPPA HGNC NCBI

Linked Data

ClinVar Variation Id: 387587
dbSNP Id: rs377582530
gnomAD v2: 7-16317751-T-C
gnomAD v3: 7-16278126-T-C
gnomAD v4: 7-16278126-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.16278126T>C , CM000669.2:g.16278126T>C GRCh38
NC_000007.13:g.16317751T>C , CM000669.1:g.16317751T>C GRCh37
NC_000007.12:g.16284276T>C NCBI36
NG_032690.1:g.148197A>G
NG_032690.2:g.148197A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000407010.7:c.933+3A>G MANE Select ENSP00000385478.2:n.933+3A>G
ENST00000674759.1:c.630+3A>G ENSP00000502749.1:n.630+3A>G
ENST00000675257.1:c.525+3A>G ENSP00000501664.1:n.525+3A>G
ENST00000676325.1:c.630+3A>G ENSP00000502074.1:n.630+3A>G
ENST00000399310.3:c.783+3A>G ENSP00000382249.3:n.783+3A>G
ENST00000407010.6:c.933+3A>G ENSP00000385478.2:n.933+3A>G
ENST00000479493.1:n.144+3A>G
NM_001101417.3:c.783+3A>G NP_001094887.1:n.783+3A>G
NM_001101426.3:c.933+3A>G NP_001094896.1:n.933+3A>G
XM_006715770.2:c.684+3A>G XP_006715833.1:n.684+3A>G
XM_011515497.1:c.933+3A>G XP_011513799.1:n.933+3A>G
XM_011515498.1:c.933+3A>G XP_011513800.1:n.933+3A>G
XM_011515499.1:c.933+3A>G XP_011513801.1:n.933+3A>G
XM_011515500.1:c.828+3A>G XP_011513802.1:n.828+3A>G
XM_011515501.1:c.933+3A>G XP_011513803.1:n.933+3A>G
XM_011515502.1:c.630+3A>G XP_011513804.1:n.630+3A>G
XM_011515503.1:c.630+3A>G XP_011513805.1:n.630+3A>G
XM_011515504.1:c.630+3A>G XP_011513806.1:n.630+3A>G
XM_011515505.1:c.630+3A>G XP_011513807.1:n.630+3A>G
XM_011515506.1:c.630+3A>G XP_011513808.1:n.630+3A>G
XM_011515507.1:c.630+3A>G XP_011513809.1:n.630+3A>G
XM_011515508.1:c.630+3A>G XP_011513810.1:n.630+3A>G
XM_011515509.1:c.630+3A>G XP_011513811.1:n.630+3A>G
XM_006715770.3:c.684+3A>G XP_006715833.1:n.684+3A>G
XM_011515499.2:c.933+3A>G XP_011513801.1:n.933+3A>G
XM_011515500.2:c.828+3A>G XP_011513802.1:n.828+3A>G
XM_011515501.2:c.933+3A>G XP_011513803.1:n.933+3A>G
XM_011515508.2:c.630+3A>G XP_011513810.1:n.630+3A>G
XM_011515509.2:c.630+3A>G XP_011513811.1:n.630+3A>G
XM_017012575.1:c.933+3A>G XP_016868064.1:n.933+3A>G
XM_017012576.1:c.933+3A>G XP_016868065.1:n.933+3A>G
XM_017012577.1:c.297+3A>G XP_016868066.1:n.297+3A>G
XM_017012578.1:c.297+3A>G XP_016868067.1:n.297+3A>G
XM_024446909.1:c.630+3A>G XP_024302677.1:n.630+3A>G
XM_024446910.1:c.630+3A>G XP_024302678.1:n.630+3A>G
XM_024446911.1:c.525+3A>G XP_024302679.1:n.525+3A>G
XM_024446912.1:c.684+3A>G XP_024302680.1:n.684+3A>G
XR_001744864.1:n.1038+3A>G
XR_001744865.1:n.1046+3A>G
XR_001744866.1:n.1174+3A>G
XR_001744868.1:n.941+3A>G
NM_001101426.4:c.933+3A>G MANE Select NP_001094896.1:n.933+3A>G
NM_001101417.4:c.783+3A>G NP_001094887.1:n.783+3A>G
NM_001368197.1:c.828+3A>G NP_001355126.1:n.828+3A>G
NR_160656.1:n.998+3A>G