Canonical Allele Identifier: CA346674711

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121690T>A (hg19) ; chr2:g.43894551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894551T>A , CM000664.2:g.43894551T>A	GRCh38
NC_000002.11:g.44121690T>A , CM000664.1:g.44121690T>A	GRCh37
NC_000002.10:g.43975194T>A	NCBI36
NG_008247.1:g.106455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.609A>T
ENST00000681993.1:n.1531A>T
ENST00000682154.1:n.1413A>T
ENST00000682303.1:c.*3690A>T	ENSP00000508325.1:n.*3690A>T
ENST00000682308.1:c.3904A>T	ENSP00000507056.1:p.Ser1302Cys
ENST00000682434.1:n.3534A>T
ENST00000682480.1:c.3997A>T	ENSP00000508344.1:p.Ser1333Cys
ENST00000682546.1:c.3976A>T	ENSP00000508188.1:p.Ser1326Cys
ENST00000682585.1:c.*107A>T	ENSP00000506885.1:n.*107A>T
ENST00000682607.1:c.2722A>T
ENST00000682612.1:c.752+2083A>T
ENST00000682696.1:c.79A>T	ENSP00000508411.1:p.Ser27Cys
ENST00000682779.1:c.3970A>T	ENSP00000507947.1:p.Ser1324Cys
ENST00000682885.1:c.3934A>T	ENSP00000508036.1:p.Ser1312Cys
ENST00000682933.1:n.4179A>T
ENST00000683002.1:c.831A>T
ENST00000683072.1:n.4563A>T
ENST00000683080.1:n.1598A>T
ENST00000683096.1:n.2420A>T
ENST00000683125.1:c.4087A>T	ENSP00000507939.1:p.Ser1363Cys
ENST00000683213.1:c.3982A>T	ENSP00000507751.1:p.Ser1328Cys
ENST00000683220.1:c.4009A>T	ENSP00000507151.1:p.Ser1337Cys
ENST00000683329.1:n.4782A>T
ENST00000683346.1:c.*3854A>T	ENSP00000507458.1:n.*3854A>T
ENST00000683409.1:n.2511A>T
ENST00000683459.1:n.4566A>T
ENST00000683590.1:c.3652A>T	ENSP00000506820.1:p.Ser1218Cys
ENST00000683623.1:c.3886A>T	ENSP00000507702.1:p.Ser1296Cys
ENST00000683796.1:c.*3776A>T	ENSP00000508221.1:n.*3776A>T
ENST00000683833.1:c.3895A>T	ENSP00000506852.1:p.Ser1299Cys
ENST00000683994.1:c.*92A>T	ENSP00000507181.1:n.*92A>T
ENST00000684290.1:c.*1440A>T	ENSP00000507243.1:n.*1440A>T
ENST00000684306.1:c.*3892A>T	ENSP00000508384.1:n.*3892A>T
ENST00000684383.1:c.*3617A>T	ENSP00000506863.1:n.*3617A>T
ENST00000684418.1:n.5160A>T
ENST00000684433.1:n.363A>T
ENST00000684454.1:n.7843A>T
ENST00000684619.1:c.*3851A>T	ENSP00000508088.1:n.*3851A>T
ENST00000684743.1:n.6724A>T
ENST00000260665.12:c.3979A>T MANE Select	ENSP00000260665.7:p.Ser1327Cys
ENST00000260665.11:c.3979A>T	ENSP00000260665.7:p.Ser1327Cys
ENST00000419884.5:c.220A>T	ENSP00000414207.1:p.Ser74Cys
ENST00000463456.5:n.3022A>T
NM_133259.3:c.3979A>T	NP_573566.2:p.Ser1327Cys
XM_006711915.2:c.3901A>T	XP_006711978.1:p.Ser1301Cys
XM_011532473.1:c.3904A>T	XP_011530775.1:p.Ser1302Cys
XM_011532474.1:c.3979A>T	XP_011530776.1:p.Ser1327Cys
XM_017003117.1:c.3826A>T	XP_016858606.1:p.Ser1276Cys
XR_002958896.1:n.4021A>T
NM_133259.4:c.3979A>T MANE Select	NP_573566.2:p.Ser1327Cys