Canonical Allele Identifier: CA346674750

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670613354
• gnomAD v4: 2-43894560-G-A
• MyVariant Identifiers: chr2:g.44121699G>A (hg19) ; chr2:g.43894560G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.600C>T
ENST00000681993.1:n.1522C>T
ENST00000682154.1:n.1404C>T
ENST00000682303.1:c.*3681C>T	ENSP00000508325.1:n.*3681C>T
ENST00000682308.1:c.3895C>T	ENSP00000507056.1:p.Leu1299Phe
ENST00000682434.1:n.3525C>T
ENST00000682480.1:c.3988C>T	ENSP00000508344.1:p.Leu1330Phe
ENST00000682546.1:c.3967C>T	ENSP00000508188.1:p.Leu1323Phe
ENST00000682585.1:c.*98C>T	ENSP00000506885.1:n.*98C>T
ENST00000682607.1:c.2713C>T
ENST00000682612.1:c.752+2074C>T
ENST00000682696.1:c.70C>T	ENSP00000508411.1:p.Leu24Phe
ENST00000682779.1:c.3961C>T	ENSP00000507947.1:p.Leu1321Phe
ENST00000682885.1:c.3925C>T	ENSP00000508036.1:p.Leu1309Phe
ENST00000682933.1:n.4170C>T
ENST00000683002.1:c.822C>T
ENST00000683072.1:n.4554C>T
ENST00000683080.1:n.1589C>T
ENST00000683096.1:n.2411C>T
ENST00000683125.1:c.4078C>T	ENSP00000507939.1:p.Leu1360Phe
ENST00000683213.1:c.3973C>T	ENSP00000507751.1:p.Leu1325Phe
ENST00000683220.1:c.4000C>T	ENSP00000507151.1:p.Leu1334Phe
ENST00000683329.1:n.4773C>T
ENST00000683346.1:c.*3845C>T	ENSP00000507458.1:n.*3845C>T
ENST00000683409.1:n.2502C>T
ENST00000683459.1:n.4557C>T
ENST00000683590.1:c.3643C>T	ENSP00000506820.1:p.Leu1215Phe
ENST00000683623.1:c.3877C>T	ENSP00000507702.1:p.Leu1293Phe
ENST00000683796.1:c.*3767C>T	ENSP00000508221.1:n.*3767C>T
ENST00000683833.1:c.3886C>T	ENSP00000506852.1:p.Leu1296Phe
ENST00000683994.1:c.*83C>T	ENSP00000507181.1:n.*83C>T
ENST00000684290.1:c.*1431C>T	ENSP00000507243.1:n.*1431C>T
ENST00000684306.1:c.*3883C>T	ENSP00000508384.1:n.*3883C>T
ENST00000684383.1:c.*3608C>T	ENSP00000506863.1:n.*3608C>T
ENST00000684418.1:n.5151C>T
ENST00000684433.1:n.354C>T
ENST00000684454.1:n.7834C>T
ENST00000684619.1:c.*3842C>T	ENSP00000508088.1:n.*3842C>T
ENST00000684743.1:n.6715C>T
ENST00000260665.12:c.3970C>T MANE Select	ENSP00000260665.7:p.Leu1324Phe
ENST00000260665.11:c.3970C>T	ENSP00000260665.7:p.Leu1324Phe
ENST00000419884.5:c.211C>T	ENSP00000414207.1:p.Leu71Phe
ENST00000463456.5:n.3013C>T
NM_133259.3:c.3970C>T	NP_573566.2:p.Leu1324Phe
XM_006711915.2:c.3892C>T	XP_006711978.1:p.Leu1298Phe
XM_011532473.1:c.3895C>T	XP_011530775.1:p.Leu1299Phe
XM_011532474.1:c.3970C>T	XP_011530776.1:p.Leu1324Phe
XM_017003117.1:c.3817C>T	XP_016858606.1:p.Leu1273Phe
XR_002958896.1:n.4012C>T
NM_133259.4:c.3970C>T MANE Select	NP_573566.2:p.Leu1324Phe