Canonical Allele Identifier: CA425909129

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121757C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894618C>G , CM000664.2:g.43894618C>G	GRCh38
NC_000002.11:g.44121757C>G , CM000664.1:g.44121757C>G	GRCh37
NC_000002.10:g.43975261C>G	NCBI36
NG_008247.1:g.106388G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.542G>C
ENST00000681993.1:n.1464G>C
ENST00000682154.1:n.1346G>C
ENST00000682303.1:c.*3623G>C	ENSP00000508325.1:n.*3623G>C
ENST00000682308.1:c.3837G>C	ENSP00000507056.1:p.Val1279=
ENST00000682434.1:n.3467G>C
ENST00000682480.1:c.3930G>C	ENSP00000508344.1:p.Val1310=
ENST00000682546.1:c.3909G>C	ENSP00000508188.1:p.Val1303=
ENST00000682585.1:c.*40G>C	ENSP00000506885.1:n.*40G>C
ENST00000682607.1:c.2655G>C
ENST00000682612.1:c.752+2016G>C
ENST00000682696.1:c.12G>C	ENSP00000508411.1:p.Val4=
ENST00000682779.1:c.3903G>C	ENSP00000507947.1:p.Val1301=
ENST00000682885.1:c.3867G>C	ENSP00000508036.1:p.Val1289=
ENST00000682933.1:n.4112G>C
ENST00000683002.1:c.764G>C
ENST00000683072.1:n.4496G>C
ENST00000683080.1:n.1531G>C
ENST00000683096.1:n.2353G>C
ENST00000683125.1:c.4020G>C	ENSP00000507939.1:p.Val1340=
ENST00000683213.1:c.3915G>C	ENSP00000507751.1:p.Val1305=
ENST00000683220.1:c.3942G>C	ENSP00000507151.1:p.Val1314=
ENST00000683329.1:n.4715G>C
ENST00000683346.1:c.*3787G>C	ENSP00000507458.1:n.*3787G>C
ENST00000683409.1:n.2444G>C
ENST00000683459.1:n.4499G>C
ENST00000683590.1:c.3585G>C	ENSP00000506820.1:p.Val1195=
ENST00000683623.1:c.3819G>C	ENSP00000507702.1:p.Val1273=
ENST00000683796.1:c.*3709G>C	ENSP00000508221.1:n.*3709G>C
ENST00000683833.1:c.3828G>C	ENSP00000506852.1:p.Val1276=
ENST00000683994.1:c.*25G>C	ENSP00000507181.1:n.*25G>C
ENST00000684290.1:c.*1373G>C	ENSP00000507243.1:n.*1373G>C
ENST00000684306.1:c.*3825G>C	ENSP00000508384.1:n.*3825G>C
ENST00000684383.1:c.*3550G>C	ENSP00000506863.1:n.*3550G>C
ENST00000684418.1:n.5093G>C
ENST00000684433.1:n.296G>C
ENST00000684454.1:n.7776G>C
ENST00000684619.1:c.*3784G>C	ENSP00000508088.1:n.*3784G>C
ENST00000684743.1:n.6657G>C
ENST00000260665.12:c.3912G>C MANE Select	ENSP00000260665.7:p.Val1304=
ENST00000260665.11:c.3912G>C	ENSP00000260665.7:p.Val1304=
ENST00000419884.5:c.153G>C	ENSP00000414207.1:p.Val51=
ENST00000463456.5:n.2955G>C
NM_133259.3:c.3912G>C	NP_573566.2:p.Val1304=
XM_006711915.2:c.3834G>C	XP_006711978.1:p.Val1278=
XM_011532473.1:c.3837G>C	XP_011530775.1:p.Val1279=
XM_011532474.1:c.3912G>C	XP_011530776.1:p.Val1304=
XM_017003117.1:c.3759G>C	XP_016858606.1:p.Val1253=
XR_002958896.1:n.3954G>C
NM_133259.4:c.3912G>C MANE Select	NP_573566.2:p.Val1304=