Canonical Allele Identifier: CA425929275
Community Standard Title: NM_001171613.2(PREPL):c.198G>A (p.Gln66=)
Gene: PREPL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44343896C>T , CM000664.2:g.44343896C>T GRCh38
NC_000002.11:g.44571035C>T , CM000664.1:g.44571035C>T GRCh37
NC_000002.10:g.44424539C>T NCBI36
NG_016429.1:g.22967G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001171613.2:c.198G>A MANE Select NP_001165084.1:p.Gln66=
ENST00000409411.6:c.198G>A MANE Select ENSP00000387095.2:p.Gln66=
NM_001042385.2:c.465G>A NP_001035844.1:p.Gln155=
NM_001042386.2:c.465G>A NP_001035845.1:p.Gln155=
NM_001171603.1:c.465G>A NP_001165074.1:p.Gln155=
NM_001171606.1:c.465G>A NP_001165077.1:p.Gln155=
NM_001171606.2:c.465G>A NP_001165077.1:p.Gln155=
NM_001171613.1:c.198G>A NP_001165084.1:p.Gln66=
NM_001171617.1:c.198G>A NP_001165088.1:p.Gln66=
NM_001374275.1:c.465G>A NP_001361204.1:p.Gln155=
NM_001374276.1:c.465G>A NP_001361205.1:p.Gln155=
NM_001374277.1:c.198G>A NP_001361206.1:p.Gln66=
NM_006036.4:c.465G>A NP_006027.2:p.Gln155=
ENST00000260648.10:c.465G>A ENSP00000260648.6:p.Gln155=
ENST00000378511.7:c.465G>A ENSP00000367772.3:p.Gln155=
ENST00000378520.7:c.465G>A ENSP00000367781.3:p.Gln155=
ENST00000409272.5:c.465G>A ENSP00000386909.1:p.Gln155=
ENST00000409411.5:c.198G>A ENSP00000387095.1:p.Gln66=
ENST00000409936.5:c.465G>A ENSP00000386543.1:p.Gln155=
ENST00000409957.5:c.198G>A ENSP00000387241.1:p.Gln66=
ENST00000410081.5:c.465G>A ENSP00000386509.1:p.Gln155=
ENST00000425263.5:c.465G>A ENSP00000391456.1:p.Gln155=
ENST00000426481.5:c.465G>A ENSP00000409480.1:p.Gln155=
ENST00000540817.1:n.469G>A
ENST00000541738.5:c.198G>A ENSP00000439626.1:p.Gln66=
XM_011533198.1:c.465G>A XP_011531500.1:p.Gln155=
XM_011533198.2:c.465G>A XP_011531500.1:p.Gln155=
XM_011533199.1:c.465G>A XP_011531501.1:p.Gln155=
XM_011533200.1:c.465G>A XP_011531502.1:p.Gln155=
XM_011533201.1:c.465G>A XP_011531503.1:p.Gln155=
XM_011533202.1:c.198G>A XP_011531504.1:p.Gln66=
XM_017005384.1:c.465G>A XP_016860873.1:p.Gln155=
XM_017005385.1:c.465G>A XP_016860874.1:p.Gln155=