Canonical Allele Identifier: CA346676430

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126386T>G (hg19) ; chr2:g.43899247T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899247T>G , CM000664.2:g.43899247T>G	GRCh38
NC_000002.11:g.44126386T>G , CM000664.1:g.44126386T>G	GRCh37
NC_000002.10:g.43979890T>G	NCBI36
NG_008247.1:g.101759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.228A>C
ENST00000472420.6:n.876A>C
ENST00000483489.2:n.228A>C
ENST00000681993.1:n.1349A>C
ENST00000682303.1:c.*3583A>C	ENSP00000508325.1:n.*3583A>C
ENST00000682308.1:c.3797A>C	ENSP00000507056.1:p.Lys1266Thr
ENST00000682434.1:n.1348A>C
ENST00000682480.1:c.3815A>C	ENSP00000508344.1:p.Lys1272Thr
ENST00000682546.1:c.3794A>C	ENSP00000508188.1:p.Lys1265Thr
ENST00000682585.1:c.3797A>C	ENSP00000506885.1:p.Lys1266Thr
ENST00000682595.1:n.4381A>C
ENST00000682607.1:c.2215A>C
ENST00000682612.1:c.649A>C
ENST00000682779.1:c.3788A>C	ENSP00000507947.1:p.Lys1263Thr
ENST00000682845.1:n.2899A>C
ENST00000682885.1:c.3752A>C	ENSP00000508036.1:p.Lys1251Thr
ENST00000682933.1:n.3871A>C
ENST00000683002.1:c.649A>C
ENST00000683072.1:n.4381A>C
ENST00000683080.1:n.1416A>C
ENST00000683125.1:c.3905A>C	ENSP00000507939.1:p.Lys1302Thr
ENST00000683213.1:c.3800A>C	ENSP00000507751.1:p.Lys1267Thr
ENST00000683220.1:c.3827A>C	ENSP00000507151.1:p.Lys1276Thr
ENST00000683329.1:n.4600A>C
ENST00000683346.1:c.*3672A>C	ENSP00000507458.1:n.*3672A>C
ENST00000683409.1:n.2404A>C
ENST00000683459.1:n.4384A>C
ENST00000683528.1:c.725A>C
ENST00000683590.1:c.3545A>C	ENSP00000506820.1:p.Lys1182Thr
ENST00000683623.1:c.3704A>C	ENSP00000507702.1:p.Lys1235Thr
ENST00000683645.1:n.4348A>C
ENST00000683796.1:c.*3669A>C	ENSP00000508221.1:n.*3669A>C
ENST00000683802.1:n.6722A>C
ENST00000683833.1:c.3788A>C	ENSP00000506852.1:p.Lys1263Thr
ENST00000683994.1:c.3797A>C	ENSP00000507181.1:p.Lys1266Thr
ENST00000684290.1:c.*1333A>C	ENSP00000507243.1:n.*1333A>C
ENST00000684306.1:c.*3710A>C	ENSP00000508384.1:n.*3710A>C
ENST00000684341.1:n.3817A>C
ENST00000684383.1:c.*3435A>C	ENSP00000506863.1:n.*3435A>C
ENST00000684418.1:n.4978A>C
ENST00000684433.1:n.181A>C
ENST00000684454.1:n.3147A>C
ENST00000684619.1:c.*3669A>C	ENSP00000508088.1:n.*3669A>C
ENST00000684743.1:n.6542A>C
ENST00000260665.12:c.3797A>C MANE Select	ENSP00000260665.7:p.Lys1266Thr
ENST00000260665.11:c.3797A>C	ENSP00000260665.7:p.Lys1266Thr
ENST00000419884.5:c.38A>C	ENSP00000414207.1:p.Lys13Thr
ENST00000463456.5:n.2840A>C
ENST00000472420.5:n.194A>C
ENST00000483489.1:n.271A>C
NM_133259.3:c.3797A>C	NP_573566.2:p.Lys1266Thr
XM_006711915.2:c.3719A>C	XP_006711978.1:p.Lys1240Thr
XM_011532473.1:c.3797A>C	XP_011530775.1:p.Lys1266Thr
XM_011532474.1:c.3797A>C	XP_011530776.1:p.Lys1266Thr
XM_017003117.1:c.3719A>C	XP_016858606.1:p.Lys1240Thr
XR_002958896.1:n.3839A>C
NM_133259.4:c.3797A>C MANE Select	NP_573566.2:p.Lys1266Thr