Canonical Allele Identifier: CA346668060

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145206G>A (hg19) ; chr2:g.43918067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918067G>A , CM000664.2:g.43918067G>A	GRCh38
NC_000002.11:g.44145206G>A , CM000664.1:g.44145206G>A	GRCh37
NC_000002.10:g.43998710G>A	NCBI36
NG_008247.1:g.82939C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.658C>T
ENST00000682295.1:c.303+189C>T	ENSP00000507499.1:n.303+189C>T
ENST00000682303.1:c.*2892C>T	ENSP00000508325.1:n.*2892C>T
ENST00000682308.1:c.3106C>T	ENSP00000507056.1:p.Gln1036Ter
ENST00000682480.1:c.3124C>T	ENSP00000508344.1:p.Gln1042Ter
ENST00000682546.1:c.3103C>T	ENSP00000508188.1:p.Gln1035Ter
ENST00000682585.1:c.3106C>T	ENSP00000506885.1:p.Gln1036Ter
ENST00000682595.1:n.3690C>T
ENST00000682607.1:c.1524C>T
ENST00000682779.1:c.3097C>T	ENSP00000507947.1:p.Gln1033Ter
ENST00000682845.1:n.2208C>T
ENST00000682885.1:c.3061C>T	ENSP00000508036.1:p.Gln1021Ter
ENST00000682933.1:n.3180C>T
ENST00000683072.1:n.3690C>T
ENST00000683080.1:n.725C>T
ENST00000683125.1:c.3214C>T	ENSP00000507939.1:p.Gln1072Ter
ENST00000683213.1:c.3109C>T	ENSP00000507751.1:p.Gln1037Ter
ENST00000683220.1:c.3136C>T	ENSP00000507151.1:p.Gln1046Ter
ENST00000683329.1:n.3909C>T
ENST00000683346.1:c.*2981C>T	ENSP00000507458.1:n.*2981C>T
ENST00000683409.1:n.1713C>T
ENST00000683459.1:n.3693C>T
ENST00000683590.1:c.2897-5509C>T	ENSP00000506820.1:n.2897-5509C>T
ENST00000683623.1:c.3013C>T	ENSP00000507702.1:p.Gln1005Ter
ENST00000683645.1:n.3657C>T
ENST00000683796.1:c.*2978C>T	ENSP00000508221.1:n.*2978C>T
ENST00000683802.1:n.6031C>T
ENST00000683833.1:c.3097C>T	ENSP00000506852.1:p.Gln1033Ter
ENST00000683994.1:c.3106C>T	ENSP00000507181.1:p.Gln1036Ter
ENST00000684290.1:c.*642C>T	ENSP00000507243.1:n.*642C>T
ENST00000684306.1:c.*3019C>T	ENSP00000508384.1:n.*3019C>T
ENST00000684341.1:n.3126C>T
ENST00000684383.1:c.*2744C>T	ENSP00000506863.1:n.*2744C>T
ENST00000684619.1:c.*2978C>T	ENSP00000508088.1:n.*2978C>T
ENST00000684705.1:n.227C>T
ENST00000684743.1:n.4137C>T
ENST00000260665.12:c.3106C>T MANE Select	ENSP00000260665.7:p.Gln1036Ter
ENST00000260665.11:c.3106C>T	ENSP00000260665.7:p.Gln1036Ter
NM_133259.3:c.3106C>T	NP_573566.2:p.Gln1036Ter
XM_006711915.2:c.3028C>T	XP_006711978.1:p.Gln1010Ter
XM_006711916.2:c.3106C>T	XP_006711979.1:p.Gln1036Ter
XM_011532473.1:c.3106C>T	XP_011530775.1:p.Gln1036Ter
XM_011532474.1:c.3106C>T	XP_011530776.1:p.Gln1036Ter
XM_006711916.3:c.3106C>T	XP_006711979.1:p.Gln1036Ter
XM_017003117.1:c.3028C>T	XP_016858606.1:p.Gln1010Ter
XR_002958896.1:n.3148C>T
NM_133259.4:c.3106C>T MANE Select	NP_573566.2:p.Gln1036Ter