Canonical Allele Identifier: CA346674944

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121762T>A (hg19) ; chr2:g.43894623T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894623T>A , CM000664.2:g.43894623T>A	GRCh38
NC_000002.11:g.44121762T>A , CM000664.1:g.44121762T>A	GRCh37
NC_000002.10:g.43975266T>A	NCBI36
NG_008247.1:g.106383A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.537A>T
ENST00000681993.1:n.1459A>T
ENST00000682154.1:n.1341A>T
ENST00000682303.1:c.*3618A>T	ENSP00000508325.1:n.*3618A>T
ENST00000682308.1:c.3832A>T	ENSP00000507056.1:p.Thr1278Ser
ENST00000682434.1:n.3462A>T
ENST00000682480.1:c.3925A>T	ENSP00000508344.1:p.Thr1309Ser
ENST00000682546.1:c.3904A>T	ENSP00000508188.1:p.Thr1302Ser
ENST00000682585.1:c.*35A>T	ENSP00000506885.1:n.*35A>T
ENST00000682607.1:c.2650A>T
ENST00000682612.1:c.752+2011A>T
ENST00000682696.1:c.7A>T	ENSP00000508411.1:p.Thr3Ser
ENST00000682779.1:c.3898A>T	ENSP00000507947.1:p.Thr1300Ser
ENST00000682885.1:c.3862A>T	ENSP00000508036.1:p.Thr1288Ser
ENST00000682933.1:n.4107A>T
ENST00000683002.1:c.759A>T
ENST00000683072.1:n.4491A>T
ENST00000683080.1:n.1526A>T
ENST00000683096.1:n.2348A>T
ENST00000683125.1:c.4015A>T	ENSP00000507939.1:p.Thr1339Ser
ENST00000683213.1:c.3910A>T	ENSP00000507751.1:p.Thr1304Ser
ENST00000683220.1:c.3937A>T	ENSP00000507151.1:p.Thr1313Ser
ENST00000683329.1:n.4710A>T
ENST00000683346.1:c.*3782A>T	ENSP00000507458.1:n.*3782A>T
ENST00000683409.1:n.2439A>T
ENST00000683459.1:n.4494A>T
ENST00000683590.1:c.3580A>T	ENSP00000506820.1:p.Thr1194Ser
ENST00000683623.1:c.3814A>T	ENSP00000507702.1:p.Thr1272Ser
ENST00000683796.1:c.*3704A>T	ENSP00000508221.1:n.*3704A>T
ENST00000683833.1:c.3823A>T	ENSP00000506852.1:p.Thr1275Ser
ENST00000683994.1:c.*20A>T	ENSP00000507181.1:n.*20A>T
ENST00000684290.1:c.*1368A>T	ENSP00000507243.1:n.*1368A>T
ENST00000684306.1:c.*3820A>T	ENSP00000508384.1:n.*3820A>T
ENST00000684383.1:c.*3545A>T	ENSP00000506863.1:n.*3545A>T
ENST00000684418.1:n.5088A>T
ENST00000684433.1:n.291A>T
ENST00000684454.1:n.7771A>T
ENST00000684619.1:c.*3779A>T	ENSP00000508088.1:n.*3779A>T
ENST00000684743.1:n.6652A>T
ENST00000260665.12:c.3907A>T MANE Select	ENSP00000260665.7:p.Thr1303Ser
ENST00000260665.11:c.3907A>T	ENSP00000260665.7:p.Thr1303Ser
ENST00000419884.5:c.148A>T	ENSP00000414207.1:p.Thr50Ser
ENST00000463456.5:n.2950A>T
NM_133259.3:c.3907A>T	NP_573566.2:p.Thr1303Ser
XM_006711915.2:c.3829A>T	XP_006711978.1:p.Thr1277Ser
XM_011532473.1:c.3832A>T	XP_011530775.1:p.Thr1278Ser
XM_011532474.1:c.3907A>T	XP_011530776.1:p.Thr1303Ser
XM_017003117.1:c.3754A>T	XP_016858606.1:p.Thr1252Ser
XR_002958896.1:n.3949A>T
NM_133259.4:c.3907A>T MANE Select	NP_573566.2:p.Thr1303Ser