Canonical Allele Identifier: CA346667878

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145169T>G (hg19) ; chr2:g.43918030T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918030T>G , CM000664.2:g.43918030T>G	GRCh38
NC_000002.11:g.44145169T>G , CM000664.1:g.44145169T>G	GRCh37
NC_000002.10:g.43998673T>G	NCBI36
NG_008247.1:g.82976A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.695A>C
ENST00000682295.1:c.303+226A>C	ENSP00000507499.1:n.303+226A>C
ENST00000682303.1:c.*2929A>C	ENSP00000508325.1:n.*2929A>C
ENST00000682308.1:c.3143A>C	ENSP00000507056.1:p.Lys1048Thr
ENST00000682480.1:c.3161A>C	ENSP00000508344.1:p.Lys1054Thr
ENST00000682546.1:c.3140A>C	ENSP00000508188.1:p.Lys1047Thr
ENST00000682585.1:c.3143A>C	ENSP00000506885.1:p.Lys1048Thr
ENST00000682595.1:n.3727A>C
ENST00000682607.1:c.1561A>C
ENST00000682779.1:c.3134A>C	ENSP00000507947.1:p.Lys1045Thr
ENST00000682845.1:n.2245A>C
ENST00000682885.1:c.3098A>C	ENSP00000508036.1:p.Lys1033Thr
ENST00000682933.1:n.3217A>C
ENST00000683072.1:n.3727A>C
ENST00000683080.1:n.762A>C
ENST00000683125.1:c.3251A>C	ENSP00000507939.1:p.Lys1084Thr
ENST00000683213.1:c.3146A>C	ENSP00000507751.1:p.Lys1049Thr
ENST00000683220.1:c.3173A>C	ENSP00000507151.1:p.Lys1058Thr
ENST00000683329.1:n.3946A>C
ENST00000683346.1:c.*3018A>C	ENSP00000507458.1:n.*3018A>C
ENST00000683409.1:n.1750A>C
ENST00000683459.1:n.3730A>C
ENST00000683590.1:c.2897-5472A>C	ENSP00000506820.1:n.2897-5472A>C
ENST00000683623.1:c.3050A>C	ENSP00000507702.1:p.Lys1017Thr
ENST00000683645.1:n.3694A>C
ENST00000683796.1:c.*3015A>C	ENSP00000508221.1:n.*3015A>C
ENST00000683802.1:n.6068A>C
ENST00000683833.1:c.3134A>C	ENSP00000506852.1:p.Lys1045Thr
ENST00000683994.1:c.3143A>C	ENSP00000507181.1:p.Lys1048Thr
ENST00000684290.1:c.*679A>C	ENSP00000507243.1:n.*679A>C
ENST00000684306.1:c.*3056A>C	ENSP00000508384.1:n.*3056A>C
ENST00000684341.1:n.3163A>C
ENST00000684383.1:c.*2781A>C	ENSP00000506863.1:n.*2781A>C
ENST00000684619.1:c.*3015A>C	ENSP00000508088.1:n.*3015A>C
ENST00000684705.1:n.264A>C
ENST00000684743.1:n.4174A>C
ENST00000260665.12:c.3143A>C MANE Select	ENSP00000260665.7:p.Lys1048Thr
ENST00000260665.11:c.3143A>C	ENSP00000260665.7:p.Lys1048Thr
NM_133259.3:c.3143A>C	NP_573566.2:p.Lys1048Thr
XM_006711915.2:c.3065A>C	XP_006711978.1:p.Lys1022Thr
XM_006711916.2:c.3143A>C	XP_006711979.1:p.Lys1048Thr
XM_011532473.1:c.3143A>C	XP_011530775.1:p.Lys1048Thr
XM_011532474.1:c.3143A>C	XP_011530776.1:p.Lys1048Thr
XM_006711916.3:c.3143A>C	XP_006711979.1:p.Lys1048Thr
XM_017003117.1:c.3065A>C	XP_016858606.1:p.Lys1022Thr
XR_002958896.1:n.3185A>C
NM_133259.4:c.3143A>C MANE Select	NP_573566.2:p.Lys1048Thr