Canonical Allele Identifier: CA74640394

Gene: NPRL2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50349388A>G , CM000665.2:g.50349388A>G	GRCh38
NC_000003.11:g.50386819A>G , CM000665.1:g.50386819A>G	GRCh37
NC_000003.10:g.50361823A>G	NCBI36
NG_042828.1:g.1359T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006545.5:c.446T>C MANE Select	NP_006536.3:p.Ile149Thr
ENST00000232501.8:c.446T>C MANE Select	ENSP00000232501.3:p.Ile149Thr
NM_006545.4:c.446T>C	NP_006536.3:p.Ile149Thr
ENST00000232501.7:c.446T>C	ENSP00000232501.3:p.Ile149Thr
ENST00000418825.5:c.*173T>C	ENSP00000396172.1:n.*173T>C
ENST00000429366.5:c.*103T>C	ENSP00000412779.1:n.*103T>C
ENST00000433381.5:c.*173T>C	ENSP00000388019.1:n.*173T>C
ENST00000433999.5:c.*290T>C	ENSP00000415045.1:n.*290T>C
ENST00000448302.1:c.*177T>C	ENSP00000389429.1:n.*177T>C
ENST00000451194.5:c.*347T>C	ENSP00000388358.1:n.*347T>C
ENST00000461020.5:n.1293T>C
ENST00000467294.1:n.1298T>C
ENST00000469839.1:n.739T>C
ENST00000476064.5:n.670T>C
ENST00000479512.5:n.1101T>C
ENST00000480296.5:n.978T>C
ENST00000487632.5:n.1109T>C
ENST00000667046.1:c.*49T>C	ENSP00000499627.1:n.*49T>C
ENST00000667631.1:n.1155T>C
ENST00000671487.1:n.580T>C
XM_005264806.1:c.269T>C	XP_005264863.1:p.Ile90Thr
XM_005264808.3:c.86T>C	XP_005264865.1:p.Ile29Thr
XM_005264808.5:c.86T>C	XP_005264865.1:p.Ile29Thr
XM_011533287.1:c.524T>C	XP_011531589.1:p.Ile175Thr
XM_011533288.1:c.437T>C	XP_011531590.1:p.Ile146Thr
XM_011533288.3:c.437T>C	XP_011531590.1:p.Ile146Thr
XM_011533289.1:c.524T>C	XP_011531591.1:p.Ile175Thr
XM_017005555.1:c.86T>C	XP_016861044.1:p.Ile29Thr
XM_017005556.2:c.86T>C	XP_016861045.1:p.Ile29Thr
XR_001739981.1:n.786T>C
XR_001739982.1:n.615T>C
XR_001739983.1:n.725T>C
XR_940364.1:n.615T>C