Canonical Allele Identifier: CA1641042

Gene: PREPL

Linked Data

• ClinVar Variation Id: 544545
• ClinVar RCV Id: RCV001496178 ; RCV003303085
• dbSNP Id: rs375292548
• ExAC: 2:44550432 C / A
• gnomAD v2: 2-44550432-C-A
• gnomAD v3: 2-44323293-C-A
• gnomAD v4: 2-44323293-C-A
• MyVariant Identifiers: chr2:g.44550432C>A (hg19) ; chr2:g.44323293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44323293C>A , CM000664.2:g.44323293C>A	GRCh38
NC_000002.11:g.44550432C>A , CM000664.1:g.44550432C>A	GRCh37
NC_000002.10:g.44403936C>A	NCBI36
NG_016429.1:g.43570G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409411.6:c.1598G>T MANE Select	ENSP00000387095.2:p.Arg533Leu
ENST00000260648.10:c.1865G>T	ENSP00000260648.6:p.Arg622Leu
ENST00000378511.7:c.1679G>T	ENSP00000367772.3:p.Arg560Leu
ENST00000378520.7:c.1667G>T	ENSP00000367781.3:p.Arg556Leu
ENST00000409272.5:c.1865G>T	ENSP00000386909.1:p.Arg622Leu
ENST00000409411.5:c.1598G>T	ENSP00000387095.1:p.Arg533Leu
ENST00000409936.5:c.1865G>T	ENSP00000386543.1:p.Arg622Leu
ENST00000409957.5:c.1598G>T	ENSP00000387241.1:p.Arg533Leu
ENST00000410081.5:c.1865G>T	ENSP00000386509.1:p.Arg622Leu
ENST00000420756.1:c.10G>T
ENST00000425263.5:c.1865G>T	ENSP00000391456.1:p.Arg622Leu
ENST00000426481.5:c.1865G>T	ENSP00000409480.1:p.Arg622Leu
ENST00000444696.5:c.50G>T	ENSP00000390618.1:p.Arg17Leu
ENST00000541738.5:c.1598G>T	ENSP00000439626.1:p.Arg533Leu
NM_001042385.2:c.1679G>T	NP_001035844.1:p.Arg560Leu
NM_001042386.2:c.1667G>T	NP_001035845.1:p.Arg556Leu
NM_001171603.1:c.1865G>T	NP_001165074.1:p.Arg622Leu
NM_001171606.1:c.1865G>T	NP_001165077.1:p.Arg622Leu
NM_001171613.1:c.1598G>T	NP_001165084.1:p.Arg533Leu
NM_001171617.1:c.1598G>T	NP_001165088.1:p.Arg533Leu
NM_006036.4:c.1865G>T	NP_006027.2:p.Arg622Leu
XM_011533198.1:c.1865G>T	XP_011531500.1:p.Arg622Leu
XM_011533199.1:c.1865G>T	XP_011531501.1:p.Arg622Leu
XM_011533200.1:c.1865G>T	XP_011531502.1:p.Arg622Leu
XM_011533201.1:c.1865G>T	XP_011531503.1:p.Arg622Leu
XM_011533202.1:c.1598G>T	XP_011531504.1:p.Arg533Leu
XM_011533198.2:c.1865G>T	XP_011531500.1:p.Arg622Leu
XM_017005384.1:c.1865G>T	XP_016860873.1:p.Arg622Leu
XM_017005385.1:c.1865G>T	XP_016860874.1:p.Arg622Leu
NM_001171613.2:c.1598G>T MANE Select	NP_001165084.1:p.Arg533Leu
NM_001374275.1:c.1865G>T	NP_001361204.1:p.Arg622Leu
NM_001374276.1:c.1865G>T	NP_001361205.1:p.Arg622Leu
NM_001374277.1:c.1598G>T	NP_001361206.1:p.Arg533Leu
NM_001171606.2:c.1865G>T	NP_001165077.1:p.Arg622Leu