Canonical Allele Identifier: CA346674754

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894560-G-T
• MyVariant Identifiers: chr2:g.44121699G>T (hg19) ; chr2:g.43894560G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894560G>T , CM000664.2:g.43894560G>T	GRCh38
NC_000002.11:g.44121699G>T , CM000664.1:g.44121699G>T	GRCh37
NC_000002.10:g.43975203G>T	NCBI36
NG_008247.1:g.106446C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.600C>A
ENST00000681993.1:n.1522C>A
ENST00000682154.1:n.1404C>A
ENST00000682303.1:c.*3681C>A	ENSP00000508325.1:n.*3681C>A
ENST00000682308.1:c.3895C>A	ENSP00000507056.1:p.Leu1299Ile
ENST00000682434.1:n.3525C>A
ENST00000682480.1:c.3988C>A	ENSP00000508344.1:p.Leu1330Ile
ENST00000682546.1:c.3967C>A	ENSP00000508188.1:p.Leu1323Ile
ENST00000682585.1:c.*98C>A	ENSP00000506885.1:n.*98C>A
ENST00000682607.1:c.2713C>A
ENST00000682612.1:c.752+2074C>A
ENST00000682696.1:c.70C>A	ENSP00000508411.1:p.Leu24Ile
ENST00000682779.1:c.3961C>A	ENSP00000507947.1:p.Leu1321Ile
ENST00000682885.1:c.3925C>A	ENSP00000508036.1:p.Leu1309Ile
ENST00000682933.1:n.4170C>A
ENST00000683002.1:c.822C>A
ENST00000683072.1:n.4554C>A
ENST00000683080.1:n.1589C>A
ENST00000683096.1:n.2411C>A
ENST00000683125.1:c.4078C>A	ENSP00000507939.1:p.Leu1360Ile
ENST00000683213.1:c.3973C>A	ENSP00000507751.1:p.Leu1325Ile
ENST00000683220.1:c.4000C>A	ENSP00000507151.1:p.Leu1334Ile
ENST00000683329.1:n.4773C>A
ENST00000683346.1:c.*3845C>A	ENSP00000507458.1:n.*3845C>A
ENST00000683409.1:n.2502C>A
ENST00000683459.1:n.4557C>A
ENST00000683590.1:c.3643C>A	ENSP00000506820.1:p.Leu1215Ile
ENST00000683623.1:c.3877C>A	ENSP00000507702.1:p.Leu1293Ile
ENST00000683796.1:c.*3767C>A	ENSP00000508221.1:n.*3767C>A
ENST00000683833.1:c.3886C>A	ENSP00000506852.1:p.Leu1296Ile
ENST00000683994.1:c.*83C>A	ENSP00000507181.1:n.*83C>A
ENST00000684290.1:c.*1431C>A	ENSP00000507243.1:n.*1431C>A
ENST00000684306.1:c.*3883C>A	ENSP00000508384.1:n.*3883C>A
ENST00000684383.1:c.*3608C>A	ENSP00000506863.1:n.*3608C>A
ENST00000684418.1:n.5151C>A
ENST00000684433.1:n.354C>A
ENST00000684454.1:n.7834C>A
ENST00000684619.1:c.*3842C>A	ENSP00000508088.1:n.*3842C>A
ENST00000684743.1:n.6715C>A
ENST00000260665.12:c.3970C>A MANE Select	ENSP00000260665.7:p.Leu1324Ile
ENST00000260665.11:c.3970C>A	ENSP00000260665.7:p.Leu1324Ile
ENST00000419884.5:c.211C>A	ENSP00000414207.1:p.Leu71Ile
ENST00000463456.5:n.3013C>A
NM_133259.3:c.3970C>A	NP_573566.2:p.Leu1324Ile
XM_006711915.2:c.3892C>A	XP_006711978.1:p.Leu1298Ile
XM_011532473.1:c.3895C>A	XP_011530775.1:p.Leu1299Ile
XM_011532474.1:c.3970C>A	XP_011530776.1:p.Leu1324Ile
XM_017003117.1:c.3817C>A	XP_016858606.1:p.Leu1273Ile
XR_002958896.1:n.4012C>A
NM_133259.4:c.3970C>A MANE Select	NP_573566.2:p.Leu1324Ile