Canonical Allele Identifier: CA346668696

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145537T>G (hg19) ; chr2:g.43918398T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918398T>G , CM000664.2:g.43918398T>G	GRCh38
NC_000002.11:g.44145537T>G , CM000664.1:g.44145537T>G	GRCh37
NC_000002.10:g.43999041T>G	NCBI36
NG_008247.1:g.82608A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.449A>C
ENST00000682295.1:c.161A>C	ENSP00000507499.1:p.Lys54Thr
ENST00000682303.1:c.*2683A>C	ENSP00000508325.1:n.*2683A>C
ENST00000682308.1:c.2897A>C	ENSP00000507056.1:p.Lys966Thr
ENST00000682480.1:c.2897A>C	ENSP00000508344.1:p.Lys966Thr
ENST00000682546.1:c.2894A>C	ENSP00000508188.1:p.Lys965Thr
ENST00000682585.1:c.2897A>C	ENSP00000506885.1:p.Lys966Thr
ENST00000682595.1:n.3481A>C
ENST00000682607.1:c.1315A>C
ENST00000682779.1:c.2888A>C	ENSP00000507947.1:p.Lys963Thr
ENST00000682845.1:n.1999A>C
ENST00000682885.1:c.2852A>C	ENSP00000508036.1:p.Lys951Thr
ENST00000682933.1:n.2971A>C
ENST00000683072.1:n.3481A>C
ENST00000683080.1:n.516A>C
ENST00000683125.1:c.3005A>C	ENSP00000507939.1:p.Glu1002Ala
ENST00000683213.1:c.2900A>C	ENSP00000507751.1:p.Lys967Thr
ENST00000683220.1:c.2927A>C	ENSP00000507151.1:p.Lys976Thr
ENST00000683236.1:c.227A>C	ENSP00000506891.1:n.227A>C
ENST00000683329.1:n.3700A>C
ENST00000683346.1:c.*2772A>C	ENSP00000507458.1:n.*2772A>C
ENST00000683409.1:n.1504A>C
ENST00000683459.1:n.3484A>C
ENST00000683590.1:c.2897-5840A>C	ENSP00000506820.1:n.2897-5840A>C
ENST00000683623.1:c.2804A>C	ENSP00000507702.1:p.Lys935Thr
ENST00000683645.1:n.3448A>C
ENST00000683796.1:c.*2769A>C	ENSP00000508221.1:n.*2769A>C
ENST00000683802.1:n.5822A>C
ENST00000683833.1:c.2888A>C	ENSP00000506852.1:p.Lys963Thr
ENST00000683994.1:c.2897A>C	ENSP00000507181.1:p.Lys966Thr
ENST00000684290.1:c.*433A>C	ENSP00000507243.1:n.*433A>C
ENST00000684306.1:c.*2810A>C	ENSP00000508384.1:n.*2810A>C
ENST00000684341.1:n.2917A>C
ENST00000684383.1:c.*2535A>C	ENSP00000506863.1:n.*2535A>C
ENST00000684619.1:c.*2769A>C	ENSP00000508088.1:n.*2769A>C
ENST00000684705.1:n.18A>C
ENST00000684743.1:n.3928A>C
ENST00000260665.12:c.2897A>C MANE Select	ENSP00000260665.7:p.Lys966Thr
ENST00000260665.11:c.2897A>C	ENSP00000260665.7:p.Lys966Thr
NM_133259.3:c.2897A>C	NP_573566.2:p.Lys966Thr
XM_006711915.2:c.2819A>C	XP_006711978.1:p.Lys940Thr
XM_006711916.2:c.2897A>C	XP_006711979.1:p.Lys966Thr
XM_011532473.1:c.2897A>C	XP_011530775.1:p.Lys966Thr
XM_011532474.1:c.2897A>C	XP_011530776.1:p.Lys966Thr
XM_006711916.3:c.2897A>C	XP_006711979.1:p.Lys966Thr
XM_017003117.1:c.2819A>C	XP_016858606.1:p.Lys940Thr
XR_002958896.1:n.2939A>C
NM_133259.4:c.2897A>C MANE Select	NP_573566.2:p.Lys966Thr