Canonical Allele Identifier: CA346676469

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126395T>G (hg19) ; chr2:g.43899256T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899256T>G , CM000664.2:g.43899256T>G	GRCh38
NC_000002.11:g.44126395T>G , CM000664.1:g.44126395T>G	GRCh37
NC_000002.10:g.43979899T>G	NCBI36
NG_008247.1:g.101750A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.219A>C
ENST00000472420.6:n.867A>C
ENST00000483489.2:n.219A>C
ENST00000681993.1:n.1340A>C
ENST00000682303.1:c.*3574A>C	ENSP00000508325.1:n.*3574A>C
ENST00000682308.1:c.3788A>C	ENSP00000507056.1:p.Asp1263Ala
ENST00000682434.1:n.1339A>C
ENST00000682480.1:c.3806A>C	ENSP00000508344.1:p.Asp1269Ala
ENST00000682546.1:c.3785A>C	ENSP00000508188.1:p.Asp1262Ala
ENST00000682585.1:c.3788A>C	ENSP00000506885.1:p.Asp1263Ala
ENST00000682595.1:n.4372A>C
ENST00000682607.1:c.2206A>C
ENST00000682612.1:c.640A>C
ENST00000682779.1:c.3779A>C	ENSP00000507947.1:p.Asp1260Ala
ENST00000682845.1:n.2890A>C
ENST00000682885.1:c.3743A>C	ENSP00000508036.1:p.Asp1248Ala
ENST00000682933.1:n.3862A>C
ENST00000683002.1:c.640A>C
ENST00000683072.1:n.4372A>C
ENST00000683080.1:n.1407A>C
ENST00000683125.1:c.3896A>C	ENSP00000507939.1:p.Asp1299Ala
ENST00000683213.1:c.3791A>C	ENSP00000507751.1:p.Asp1264Ala
ENST00000683220.1:c.3818A>C	ENSP00000507151.1:p.Asp1273Ala
ENST00000683329.1:n.4591A>C
ENST00000683346.1:c.*3663A>C	ENSP00000507458.1:n.*3663A>C
ENST00000683409.1:n.2395A>C
ENST00000683459.1:n.4375A>C
ENST00000683528.1:c.716A>C
ENST00000683590.1:c.3536A>C	ENSP00000506820.1:p.Asp1179Ala
ENST00000683623.1:c.3695A>C	ENSP00000507702.1:p.Asp1232Ala
ENST00000683645.1:n.4339A>C
ENST00000683796.1:c.*3660A>C	ENSP00000508221.1:n.*3660A>C
ENST00000683802.1:n.6713A>C
ENST00000683833.1:c.3779A>C	ENSP00000506852.1:p.Asp1260Ala
ENST00000683994.1:c.3788A>C	ENSP00000507181.1:p.Asp1263Ala
ENST00000684290.1:c.*1324A>C	ENSP00000507243.1:n.*1324A>C
ENST00000684306.1:c.*3701A>C	ENSP00000508384.1:n.*3701A>C
ENST00000684341.1:n.3808A>C
ENST00000684383.1:c.*3426A>C	ENSP00000506863.1:n.*3426A>C
ENST00000684418.1:n.4969A>C
ENST00000684433.1:n.172A>C
ENST00000684454.1:n.3138A>C
ENST00000684619.1:c.*3660A>C	ENSP00000508088.1:n.*3660A>C
ENST00000684743.1:n.6533A>C
ENST00000260665.12:c.3788A>C MANE Select	ENSP00000260665.7:p.Asp1263Ala
ENST00000260665.11:c.3788A>C	ENSP00000260665.7:p.Asp1263Ala
ENST00000419884.5:c.29A>C	ENSP00000414207.1:p.Asp10Ala
ENST00000463456.5:n.2831A>C
ENST00000472420.5:n.185A>C
ENST00000483489.1:n.262A>C
NM_133259.3:c.3788A>C	NP_573566.2:p.Asp1263Ala
XM_006711915.2:c.3710A>C	XP_006711978.1:p.Asp1237Ala
XM_011532473.1:c.3788A>C	XP_011530775.1:p.Asp1263Ala
XM_011532474.1:c.3788A>C	XP_011530776.1:p.Asp1263Ala
XM_017003117.1:c.3710A>C	XP_016858606.1:p.Asp1237Ala
XR_002958896.1:n.3830A>C
NM_133259.4:c.3788A>C MANE Select	NP_573566.2:p.Asp1263Ala