Canonical Allele Identifier: CA346674949

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121764G>A (hg19) ; chr2:g.43894625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894625G>A , CM000664.2:g.43894625G>A	GRCh38
NC_000002.11:g.44121764G>A , CM000664.1:g.44121764G>A	GRCh37
NC_000002.10:g.43975268G>A	NCBI36
NG_008247.1:g.106381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.535C>T
ENST00000681993.1:n.1457C>T
ENST00000682154.1:n.1339C>T
ENST00000682303.1:c.*3616C>T	ENSP00000508325.1:n.*3616C>T
ENST00000682308.1:c.3830C>T	ENSP00000507056.1:p.Ser1277Leu
ENST00000682434.1:n.3460C>T
ENST00000682480.1:c.3923C>T	ENSP00000508344.1:p.Ser1308Leu
ENST00000682546.1:c.3902C>T	ENSP00000508188.1:p.Ser1301Leu
ENST00000682585.1:c.*33C>T	ENSP00000506885.1:n.*33C>T
ENST00000682607.1:c.2648C>T
ENST00000682612.1:c.752+2009C>T
ENST00000682696.1:c.5C>T	ENSP00000508411.1:p.Ser2Leu
ENST00000682779.1:c.3896C>T	ENSP00000507947.1:p.Ser1299Leu
ENST00000682885.1:c.3860C>T	ENSP00000508036.1:p.Ser1287Leu
ENST00000682933.1:n.4105C>T
ENST00000683002.1:c.757C>T
ENST00000683072.1:n.4489C>T
ENST00000683080.1:n.1524C>T
ENST00000683096.1:n.2346C>T
ENST00000683125.1:c.4013C>T	ENSP00000507939.1:p.Ser1338Leu
ENST00000683213.1:c.3908C>T	ENSP00000507751.1:p.Ser1303Leu
ENST00000683220.1:c.3935C>T	ENSP00000507151.1:p.Ser1312Leu
ENST00000683329.1:n.4708C>T
ENST00000683346.1:c.*3780C>T	ENSP00000507458.1:n.*3780C>T
ENST00000683409.1:n.2437C>T
ENST00000683459.1:n.4492C>T
ENST00000683590.1:c.3578C>T	ENSP00000506820.1:p.Ser1193Leu
ENST00000683623.1:c.3812C>T	ENSP00000507702.1:p.Ser1271Leu
ENST00000683796.1:c.*3702C>T	ENSP00000508221.1:n.*3702C>T
ENST00000683833.1:c.3821C>T	ENSP00000506852.1:p.Ser1274Leu
ENST00000683994.1:c.*18C>T	ENSP00000507181.1:n.*18C>T
ENST00000684290.1:c.*1366C>T	ENSP00000507243.1:n.*1366C>T
ENST00000684306.1:c.*3818C>T	ENSP00000508384.1:n.*3818C>T
ENST00000684383.1:c.*3543C>T	ENSP00000506863.1:n.*3543C>T
ENST00000684418.1:n.5086C>T
ENST00000684433.1:n.289C>T
ENST00000684454.1:n.7769C>T
ENST00000684619.1:c.*3777C>T	ENSP00000508088.1:n.*3777C>T
ENST00000684743.1:n.6650C>T
ENST00000260665.12:c.3905C>T MANE Select	ENSP00000260665.7:p.Ser1302Leu
ENST00000260665.11:c.3905C>T	ENSP00000260665.7:p.Ser1302Leu
ENST00000419884.5:c.146C>T	ENSP00000414207.1:p.Ser49Leu
ENST00000463456.5:n.2948C>T
NM_133259.3:c.3905C>T	NP_573566.2:p.Ser1302Leu
XM_006711915.2:c.3827C>T	XP_006711978.1:p.Ser1276Leu
XM_011532473.1:c.3830C>T	XP_011530775.1:p.Ser1277Leu
XM_011532474.1:c.3905C>T	XP_011530776.1:p.Ser1302Leu
XM_017003117.1:c.3752C>T	XP_016858606.1:p.Ser1251Leu
XR_002958896.1:n.3947C>T
NM_133259.4:c.3905C>T MANE Select	NP_573566.2:p.Ser1302Leu