Canonical Allele Identifier: CA346667862

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145166T>G (hg19) ; chr2:g.43918027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918027T>G , CM000664.2:g.43918027T>G	GRCh38
NC_000002.11:g.44145166T>G , CM000664.1:g.44145166T>G	GRCh37
NC_000002.10:g.43998670T>G	NCBI36
NG_008247.1:g.82979A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.698A>C
ENST00000682295.1:c.303+229A>C	ENSP00000507499.1:n.303+229A>C
ENST00000682303.1:c.*2932A>C	ENSP00000508325.1:n.*2932A>C
ENST00000682308.1:c.3146A>C	ENSP00000507056.1:p.Lys1049Thr
ENST00000682480.1:c.3164A>C	ENSP00000508344.1:p.Lys1055Thr
ENST00000682546.1:c.3143A>C	ENSP00000508188.1:p.Lys1048Thr
ENST00000682585.1:c.3146A>C	ENSP00000506885.1:p.Lys1049Thr
ENST00000682595.1:n.3730A>C
ENST00000682607.1:c.1564A>C
ENST00000682779.1:c.3137A>C	ENSP00000507947.1:p.Lys1046Thr
ENST00000682845.1:n.2248A>C
ENST00000682885.1:c.3101A>C	ENSP00000508036.1:p.Lys1034Thr
ENST00000682933.1:n.3220A>C
ENST00000683072.1:n.3730A>C
ENST00000683080.1:n.765A>C
ENST00000683125.1:c.3254A>C	ENSP00000507939.1:p.Lys1085Thr
ENST00000683213.1:c.3149A>C	ENSP00000507751.1:p.Lys1050Thr
ENST00000683220.1:c.3176A>C	ENSP00000507151.1:p.Lys1059Thr
ENST00000683329.1:n.3949A>C
ENST00000683346.1:c.*3021A>C	ENSP00000507458.1:n.*3021A>C
ENST00000683409.1:n.1753A>C
ENST00000683459.1:n.3733A>C
ENST00000683590.1:c.2897-5469A>C	ENSP00000506820.1:n.2897-5469A>C
ENST00000683623.1:c.3053A>C	ENSP00000507702.1:p.Lys1018Thr
ENST00000683645.1:n.3697A>C
ENST00000683796.1:c.*3018A>C	ENSP00000508221.1:n.*3018A>C
ENST00000683802.1:n.6071A>C
ENST00000683833.1:c.3137A>C	ENSP00000506852.1:p.Lys1046Thr
ENST00000683994.1:c.3146A>C	ENSP00000507181.1:p.Lys1049Thr
ENST00000684290.1:c.*682A>C	ENSP00000507243.1:n.*682A>C
ENST00000684306.1:c.*3059A>C	ENSP00000508384.1:n.*3059A>C
ENST00000684341.1:n.3166A>C
ENST00000684383.1:c.*2784A>C	ENSP00000506863.1:n.*2784A>C
ENST00000684619.1:c.*3018A>C	ENSP00000508088.1:n.*3018A>C
ENST00000684705.1:n.267A>C
ENST00000684743.1:n.4177A>C
ENST00000260665.12:c.3146A>C MANE Select	ENSP00000260665.7:p.Lys1049Thr
ENST00000260665.11:c.3146A>C	ENSP00000260665.7:p.Lys1049Thr
NM_133259.3:c.3146A>C	NP_573566.2:p.Lys1049Thr
XM_006711915.2:c.3068A>C	XP_006711978.1:p.Lys1023Thr
XM_006711916.2:c.3146A>C	XP_006711979.1:p.Lys1049Thr
XM_011532473.1:c.3146A>C	XP_011530775.1:p.Lys1049Thr
XM_011532474.1:c.3146A>C	XP_011530776.1:p.Lys1049Thr
XM_006711916.3:c.3146A>C	XP_006711979.1:p.Lys1049Thr
XM_017003117.1:c.3068A>C	XP_016858606.1:p.Lys1023Thr
XR_002958896.1:n.3188A>C
NM_133259.4:c.3146A>C MANE Select	NP_573566.2:p.Lys1049Thr