Canonical Allele Identifier: CA346676391

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126378C>T (hg19) ; chr2:g.43899239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899239C>T , CM000664.2:g.43899239C>T	GRCh38
NC_000002.11:g.44126378C>T , CM000664.1:g.44126378C>T	GRCh37
NC_000002.10:g.43979882C>T	NCBI36
NG_008247.1:g.101767G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.236G>A
ENST00000472420.6:n.884G>A
ENST00000483489.2:n.236G>A
ENST00000681993.1:n.1357G>A
ENST00000682303.1:c.*3591G>A	ENSP00000508325.1:n.*3591G>A
ENST00000682308.1:c.3805G>A	ENSP00000507056.1:p.Asp1269Asn
ENST00000682434.1:n.1356G>A
ENST00000682480.1:c.3823G>A	ENSP00000508344.1:p.Asp1275Asn
ENST00000682546.1:c.3802G>A	ENSP00000508188.1:p.Asp1268Asn
ENST00000682585.1:c.3805G>A	ENSP00000506885.1:p.Asp1269Asn
ENST00000682595.1:n.4389G>A
ENST00000682607.1:c.2223G>A
ENST00000682612.1:c.657G>A
ENST00000682779.1:c.3796G>A	ENSP00000507947.1:p.Asp1266Asn
ENST00000682885.1:c.3760G>A	ENSP00000508036.1:p.Asp1254Asn
ENST00000682933.1:n.3879G>A
ENST00000683002.1:c.657G>A
ENST00000683072.1:n.4389G>A
ENST00000683080.1:n.1424G>A
ENST00000683125.1:c.3913G>A	ENSP00000507939.1:p.Asp1305Asn
ENST00000683213.1:c.3808G>A	ENSP00000507751.1:p.Asp1270Asn
ENST00000683220.1:c.3835G>A	ENSP00000507151.1:p.Asp1279Asn
ENST00000683329.1:n.4608G>A
ENST00000683346.1:c.*3680G>A	ENSP00000507458.1:n.*3680G>A
ENST00000683409.1:n.2412G>A
ENST00000683459.1:n.4392G>A
ENST00000683528.1:c.733G>A
ENST00000683590.1:c.3553G>A	ENSP00000506820.1:p.Asp1185Asn
ENST00000683623.1:c.3712G>A	ENSP00000507702.1:p.Asp1238Asn
ENST00000683645.1:n.4356G>A
ENST00000683796.1:c.*3677G>A	ENSP00000508221.1:n.*3677G>A
ENST00000683802.1:n.6730G>A
ENST00000683833.1:c.3796G>A	ENSP00000506852.1:p.Asp1266Asn
ENST00000683994.1:c.3805G>A	ENSP00000507181.1:p.Asp1269Asn
ENST00000684290.1:c.*1341G>A	ENSP00000507243.1:n.*1341G>A
ENST00000684306.1:c.*3718G>A	ENSP00000508384.1:n.*3718G>A
ENST00000684341.1:n.3825G>A
ENST00000684383.1:c.*3443G>A	ENSP00000506863.1:n.*3443G>A
ENST00000684418.1:n.4986G>A
ENST00000684433.1:n.189G>A
ENST00000684454.1:n.3155G>A
ENST00000684619.1:c.*3677G>A	ENSP00000508088.1:n.*3677G>A
ENST00000684743.1:n.6550G>A
ENST00000260665.12:c.3805G>A MANE Select	ENSP00000260665.7:p.Asp1269Asn
ENST00000260665.11:c.3805G>A	ENSP00000260665.7:p.Asp1269Asn
ENST00000419884.5:c.46G>A	ENSP00000414207.1:p.Asp16Asn
ENST00000463456.5:n.2848G>A
ENST00000472420.5:n.202G>A
ENST00000483489.1:n.279G>A
NM_133259.3:c.3805G>A	NP_573566.2:p.Asp1269Asn
XM_006711915.2:c.3727G>A	XP_006711978.1:p.Asp1243Asn
XM_011532473.1:c.3805G>A	XP_011530775.1:p.Asp1269Asn
XM_011532474.1:c.3805G>A	XP_011530776.1:p.Asp1269Asn
XM_017003117.1:c.3727G>A	XP_016858606.1:p.Asp1243Asn
XR_002958896.1:n.3847G>A
NM_133259.4:c.3805G>A MANE Select	NP_573566.2:p.Asp1269Asn