Canonical Allele Identifier: CA425909112

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894594-A-T
• MyVariant Identifiers: chr2:g.44121733A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894594A>T , CM000664.2:g.43894594A>T	GRCh38
NC_000002.11:g.44121733A>T , CM000664.1:g.44121733A>T	GRCh37
NC_000002.10:g.43975237A>T	NCBI36
NG_008247.1:g.106412T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.566T>A
ENST00000681993.1:n.1488T>A
ENST00000682154.1:n.1370T>A
ENST00000682303.1:c.*3647T>A	ENSP00000508325.1:n.*3647T>A
ENST00000682308.1:c.3861T>A	ENSP00000507056.1:p.Pro1287=
ENST00000682434.1:n.3491T>A
ENST00000682480.1:c.3954T>A	ENSP00000508344.1:p.Pro1318=
ENST00000682546.1:c.3933T>A	ENSP00000508188.1:p.Pro1311=
ENST00000682585.1:c.*64T>A	ENSP00000506885.1:n.*64T>A
ENST00000682607.1:c.2679T>A
ENST00000682612.1:c.752+2040T>A
ENST00000682696.1:c.36T>A	ENSP00000508411.1:p.Pro12=
ENST00000682779.1:c.3927T>A	ENSP00000507947.1:p.Pro1309=
ENST00000682885.1:c.3891T>A	ENSP00000508036.1:p.Pro1297=
ENST00000682933.1:n.4136T>A
ENST00000683002.1:c.788T>A
ENST00000683072.1:n.4520T>A
ENST00000683080.1:n.1555T>A
ENST00000683096.1:n.2377T>A
ENST00000683125.1:c.4044T>A	ENSP00000507939.1:p.Pro1348=
ENST00000683213.1:c.3939T>A	ENSP00000507751.1:p.Pro1313=
ENST00000683220.1:c.3966T>A	ENSP00000507151.1:p.Pro1322=
ENST00000683329.1:n.4739T>A
ENST00000683346.1:c.*3811T>A	ENSP00000507458.1:n.*3811T>A
ENST00000683409.1:n.2468T>A
ENST00000683459.1:n.4523T>A
ENST00000683590.1:c.3609T>A	ENSP00000506820.1:p.Pro1203=
ENST00000683623.1:c.3843T>A	ENSP00000507702.1:p.Pro1281=
ENST00000683796.1:c.*3733T>A	ENSP00000508221.1:n.*3733T>A
ENST00000683833.1:c.3852T>A	ENSP00000506852.1:p.Pro1284=
ENST00000683994.1:c.*49T>A	ENSP00000507181.1:n.*49T>A
ENST00000684290.1:c.*1397T>A	ENSP00000507243.1:n.*1397T>A
ENST00000684306.1:c.*3849T>A	ENSP00000508384.1:n.*3849T>A
ENST00000684383.1:c.*3574T>A	ENSP00000506863.1:n.*3574T>A
ENST00000684418.1:n.5117T>A
ENST00000684433.1:n.320T>A
ENST00000684454.1:n.7800T>A
ENST00000684619.1:c.*3808T>A	ENSP00000508088.1:n.*3808T>A
ENST00000684743.1:n.6681T>A
ENST00000260665.12:c.3936T>A MANE Select	ENSP00000260665.7:p.Pro1312=
ENST00000260665.11:c.3936T>A	ENSP00000260665.7:p.Pro1312=
ENST00000419884.5:c.177T>A	ENSP00000414207.1:p.Pro59=
ENST00000463456.5:n.2979T>A
NM_133259.3:c.3936T>A	NP_573566.2:p.Pro1312=
XM_006711915.2:c.3858T>A	XP_006711978.1:p.Pro1286=
XM_011532473.1:c.3861T>A	XP_011530775.1:p.Pro1287=
XM_011532474.1:c.3936T>A	XP_011530776.1:p.Pro1312=
XM_017003117.1:c.3783T>A	XP_016858606.1:p.Pro1261=
XR_002958896.1:n.3978T>A
NM_133259.4:c.3936T>A MANE Select	NP_573566.2:p.Pro1312=