Canonical Allele Identifier: CA346676339

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899226-A-T
• MyVariant Identifiers: chr2:g.44126365A>T (hg19) ; chr2:g.43899226A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899226A>T , CM000664.2:g.43899226A>T	GRCh38
NC_000002.11:g.44126365A>T , CM000664.1:g.44126365A>T	GRCh37
NC_000002.10:g.43979869A>T	NCBI36
NG_008247.1:g.101780T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.249T>A
ENST00000472420.6:n.897T>A
ENST00000483489.2:n.249T>A
ENST00000681993.1:n.1370T>A
ENST00000682303.1:c.*3604T>A	ENSP00000508325.1:n.*3604T>A
ENST00000682308.1:c.3818T>A	ENSP00000507056.1:p.Leu1273His
ENST00000682434.1:n.1369T>A
ENST00000682480.1:c.3836T>A	ENSP00000508344.1:p.Leu1279His
ENST00000682546.1:c.3815T>A	ENSP00000508188.1:p.Leu1272His
ENST00000682585.1:c.3818T>A	ENSP00000506885.1:p.Leu1273His
ENST00000682595.1:n.4402T>A
ENST00000682607.1:c.2236T>A
ENST00000682612.1:c.670T>A
ENST00000682779.1:c.3809T>A	ENSP00000507947.1:p.Leu1270His
ENST00000682885.1:c.3773T>A	ENSP00000508036.1:p.Leu1258His
ENST00000682933.1:n.3892T>A
ENST00000683002.1:c.670T>A
ENST00000683072.1:n.4402T>A
ENST00000683080.1:n.1437T>A
ENST00000683125.1:c.3926T>A	ENSP00000507939.1:p.Leu1309His
ENST00000683213.1:c.3821T>A	ENSP00000507751.1:p.Leu1274His
ENST00000683220.1:c.3848T>A	ENSP00000507151.1:p.Leu1283His
ENST00000683329.1:n.4621T>A
ENST00000683346.1:c.*3693T>A	ENSP00000507458.1:n.*3693T>A
ENST00000683409.1:n.2425T>A
ENST00000683459.1:n.4405T>A
ENST00000683528.1:c.746T>A
ENST00000683590.1:c.3566T>A	ENSP00000506820.1:p.Leu1189His
ENST00000683623.1:c.3725T>A	ENSP00000507702.1:p.Leu1242His
ENST00000683645.1:n.4369T>A
ENST00000683796.1:c.*3690T>A	ENSP00000508221.1:n.*3690T>A
ENST00000683833.1:c.3809T>A	ENSP00000506852.1:p.Leu1270His
ENST00000683994.1:c.3818T>A	ENSP00000507181.1:p.Leu1273His
ENST00000684290.1:c.*1354T>A	ENSP00000507243.1:n.*1354T>A
ENST00000684306.1:c.*3731T>A	ENSP00000508384.1:n.*3731T>A
ENST00000684341.1:n.3838T>A
ENST00000684383.1:c.*3456T>A	ENSP00000506863.1:n.*3456T>A
ENST00000684418.1:n.4999T>A
ENST00000684433.1:n.202T>A
ENST00000684454.1:n.3168T>A
ENST00000684619.1:c.*3690T>A	ENSP00000508088.1:n.*3690T>A
ENST00000684743.1:n.6563T>A
ENST00000260665.12:c.3818T>A MANE Select	ENSP00000260665.7:p.Leu1273His
ENST00000260665.11:c.3818T>A	ENSP00000260665.7:p.Leu1273His
ENST00000419884.5:c.59T>A	ENSP00000414207.1:p.Leu20His
ENST00000463456.5:n.2861T>A
ENST00000472420.5:n.215T>A
ENST00000483489.1:n.292T>A
NM_133259.3:c.3818T>A	NP_573566.2:p.Leu1273His
XM_006711915.2:c.3740T>A	XP_006711978.1:p.Leu1247His
XM_011532473.1:c.3818T>A	XP_011530775.1:p.Leu1273His
XM_011532474.1:c.3818T>A	XP_011530776.1:p.Leu1273His
XM_017003117.1:c.3740T>A	XP_016858606.1:p.Leu1247His
XR_002958896.1:n.3860T>A
NM_133259.4:c.3818T>A MANE Select	NP_573566.2:p.Leu1273His