Canonical Allele Identifier: CA1641063

Gene: PREPL

Linked Data

• ClinVar Variation Id: 478310
• ClinVar RCV Id: RCV000526908 ; RCV002526761
• dbSNP Id: rs369887158
• ExAC: 2:44550520 T / A
• gnomAD v2: 2-44550520-T-A
• gnomAD v3: 2-44323381-T-A
• gnomAD v4: 2-44323381-T-A
• MyVariant Identifiers: chr2:g.44550520T>A (hg19) ; chr2:g.44323381T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44323381T>A , CM000664.2:g.44323381T>A	GRCh38
NC_000002.11:g.44550520T>A , CM000664.1:g.44550520T>A	GRCh37
NC_000002.10:g.44404024T>A	NCBI36
NG_016429.1:g.43482A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409411.6:c.1510A>T MANE Select	ENSP00000387095.2:p.Met504Leu
ENST00000260648.10:c.1777A>T	ENSP00000260648.6:p.Met593Leu
ENST00000378511.7:c.1591A>T	ENSP00000367772.3:p.Met531Leu
ENST00000378520.7:c.1579A>T	ENSP00000367781.3:p.Met527Leu
ENST00000409272.5:c.1777A>T	ENSP00000386909.1:p.Met593Leu
ENST00000409411.5:c.1510A>T	ENSP00000387095.1:p.Met504Leu
ENST00000409936.5:c.1777A>T	ENSP00000386543.1:p.Met593Leu
ENST00000409957.5:c.1510A>T	ENSP00000387241.1:p.Met504Leu
ENST00000410081.5:c.1777A>T	ENSP00000386509.1:p.Met593Leu
ENST00000425263.5:c.1777A>T	ENSP00000391456.1:p.Met593Leu
ENST00000426481.5:c.1777A>T	ENSP00000409480.1:p.Met593Leu
ENST00000541738.5:c.1510A>T	ENSP00000439626.1:p.Met504Leu
NM_001042385.2:c.1591A>T	NP_001035844.1:p.Met531Leu
NM_001042386.2:c.1579A>T	NP_001035845.1:p.Met527Leu
NM_001171603.1:c.1777A>T	NP_001165074.1:p.Met593Leu
NM_001171606.1:c.1777A>T	NP_001165077.1:p.Met593Leu
NM_001171613.1:c.1510A>T	NP_001165084.1:p.Met504Leu
NM_001171617.1:c.1510A>T	NP_001165088.1:p.Met504Leu
NM_006036.4:c.1777A>T	NP_006027.2:p.Met593Leu
XM_011533198.1:c.1777A>T	XP_011531500.1:p.Met593Leu
XM_011533199.1:c.1777A>T	XP_011531501.1:p.Met593Leu
XM_011533200.1:c.1777A>T	XP_011531502.1:p.Met593Leu
XM_011533201.1:c.1777A>T	XP_011531503.1:p.Met593Leu
XM_011533202.1:c.1510A>T	XP_011531504.1:p.Met504Leu
XM_011533198.2:c.1777A>T	XP_011531500.1:p.Met593Leu
XM_017005384.1:c.1777A>T	XP_016860873.1:p.Met593Leu
XM_017005385.1:c.1777A>T	XP_016860874.1:p.Met593Leu
NM_001171613.2:c.1510A>T MANE Select	NP_001165084.1:p.Met504Leu
NM_001374275.1:c.1777A>T	NP_001361204.1:p.Met593Leu
NM_001374276.1:c.1777A>T	NP_001361205.1:p.Met593Leu
NM_001374277.1:c.1510A>T	NP_001361206.1:p.Met504Leu
NM_001171606.2:c.1777A>T	NP_001165077.1:p.Met593Leu