Canonical Allele Identifier: CA532703612
Gene: PREPL HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44339367G>C , CM000664.2:g.44339367G>C GRCh38
NC_000002.11:g.44566506G>C , CM000664.1:g.44566506G>C GRCh37
NC_000002.10:g.44420010G>C NCBI36
NG_016429.1:g.27496C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000409411.6:c.486-4C>G MANE Select ENSP00000387095.2:n.486-4C>G
ENST00000260648.10:c.753-4C>G ENSP00000260648.6:n.753-4C>G
ENST00000378511.7:c.753-4C>G ENSP00000367772.3:n.753-4C>G
ENST00000378520.7:c.753-4C>G ENSP00000367781.3:n.753-4C>G
ENST00000409272.5:c.753-4C>G ENSP00000386909.1:n.753-4C>G
ENST00000409411.5:c.486-4C>G ENSP00000387095.1:n.486-4C>G
ENST00000409936.5:c.753-4C>G ENSP00000386543.1:n.753-4C>G
ENST00000409957.5:c.486-4C>G ENSP00000387241.1:n.486-4C>G
ENST00000410081.5:c.753-4C>G ENSP00000386509.1:n.753-4C>G
ENST00000425263.5:c.753-4C>G ENSP00000391456.1:n.753-4C>G
ENST00000426481.5:c.753-4C>G ENSP00000409480.1:n.753-4C>G
ENST00000541738.5:c.486-4C>G ENSP00000439626.1:n.486-4C>G
NM_001042385.2:c.753-4C>G NP_001035844.1:n.753-4C>G
NM_001042386.2:c.753-4C>G NP_001035845.1:n.753-4C>G
NM_001171603.1:c.753-4C>G NP_001165074.1:n.753-4C>G
NM_001171606.1:c.753-4C>G NP_001165077.1:n.753-4C>G
NM_001171613.1:c.486-4C>G NP_001165084.1:n.486-4C>G
NM_001171617.1:c.486-4C>G NP_001165088.1:n.486-4C>G
NM_006036.4:c.753-4C>G NP_006027.2:n.753-4C>G
XM_011533198.1:c.753-4C>G XP_011531500.1:n.753-4C>G
XM_011533199.1:c.753-4C>G XP_011531501.1:n.753-4C>G
XM_011533200.1:c.753-4C>G XP_011531502.1:n.753-4C>G
XM_011533201.1:c.753-4C>G XP_011531503.1:n.753-4C>G
XM_011533202.1:c.486-4C>G XP_011531504.1:n.486-4C>G
XM_011533198.2:c.753-4C>G XP_011531500.1:n.753-4C>G
XM_017005384.1:c.753-4C>G XP_016860873.1:n.753-4C>G
XM_017005385.1:c.753-4C>G XP_016860874.1:n.753-4C>G
NM_001171613.2:c.486-4C>G MANE Select NP_001165084.1:n.486-4C>G
NM_001374275.1:c.753-4C>G NP_001361204.1:n.753-4C>G
NM_001374276.1:c.753-4C>G NP_001361205.1:n.753-4C>G
NM_001374277.1:c.486-4C>G NP_001361206.1:n.486-4C>G
NM_001171606.2:c.753-4C>G NP_001165077.1:n.753-4C>G