Canonical Allele Identifier: CA346674727

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121693T>G (hg19) ; chr2:g.43894554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894554T>G , CM000664.2:g.43894554T>G	GRCh38
NC_000002.11:g.44121693T>G , CM000664.1:g.44121693T>G	GRCh37
NC_000002.10:g.43975197T>G	NCBI36
NG_008247.1:g.106452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.606A>C
ENST00000681993.1:n.1528A>C
ENST00000682154.1:n.1410A>C
ENST00000682303.1:c.*3687A>C	ENSP00000508325.1:n.*3687A>C
ENST00000682308.1:c.3901A>C	ENSP00000507056.1:p.Lys1301Gln
ENST00000682434.1:n.3531A>C
ENST00000682480.1:c.3994A>C	ENSP00000508344.1:p.Lys1332Gln
ENST00000682546.1:c.3973A>C	ENSP00000508188.1:p.Lys1325Gln
ENST00000682585.1:c.*104A>C	ENSP00000506885.1:n.*104A>C
ENST00000682607.1:c.2719A>C
ENST00000682612.1:c.752+2080A>C
ENST00000682696.1:c.76A>C	ENSP00000508411.1:p.Lys26Gln
ENST00000682779.1:c.3967A>C	ENSP00000507947.1:p.Lys1323Gln
ENST00000682885.1:c.3931A>C	ENSP00000508036.1:p.Lys1311Gln
ENST00000682933.1:n.4176A>C
ENST00000683002.1:c.828A>C
ENST00000683072.1:n.4560A>C
ENST00000683080.1:n.1595A>C
ENST00000683096.1:n.2417A>C
ENST00000683125.1:c.4084A>C	ENSP00000507939.1:p.Lys1362Gln
ENST00000683213.1:c.3979A>C	ENSP00000507751.1:p.Lys1327Gln
ENST00000683220.1:c.4006A>C	ENSP00000507151.1:p.Lys1336Gln
ENST00000683329.1:n.4779A>C
ENST00000683346.1:c.*3851A>C	ENSP00000507458.1:n.*3851A>C
ENST00000683409.1:n.2508A>C
ENST00000683459.1:n.4563A>C
ENST00000683590.1:c.3649A>C	ENSP00000506820.1:p.Lys1217Gln
ENST00000683623.1:c.3883A>C	ENSP00000507702.1:p.Lys1295Gln
ENST00000683796.1:c.*3773A>C	ENSP00000508221.1:n.*3773A>C
ENST00000683833.1:c.3892A>C	ENSP00000506852.1:p.Lys1298Gln
ENST00000683994.1:c.*89A>C	ENSP00000507181.1:n.*89A>C
ENST00000684290.1:c.*1437A>C	ENSP00000507243.1:n.*1437A>C
ENST00000684306.1:c.*3889A>C	ENSP00000508384.1:n.*3889A>C
ENST00000684383.1:c.*3614A>C	ENSP00000506863.1:n.*3614A>C
ENST00000684418.1:n.5157A>C
ENST00000684433.1:n.360A>C
ENST00000684454.1:n.7840A>C
ENST00000684619.1:c.*3848A>C	ENSP00000508088.1:n.*3848A>C
ENST00000684743.1:n.6721A>C
ENST00000260665.12:c.3976A>C MANE Select	ENSP00000260665.7:p.Lys1326Gln
ENST00000260665.11:c.3976A>C	ENSP00000260665.7:p.Lys1326Gln
ENST00000419884.5:c.217A>C	ENSP00000414207.1:p.Lys73Gln
ENST00000463456.5:n.3019A>C
NM_133259.3:c.3976A>C	NP_573566.2:p.Lys1326Gln
XM_006711915.2:c.3898A>C	XP_006711978.1:p.Lys1300Gln
XM_011532473.1:c.3901A>C	XP_011530775.1:p.Lys1301Gln
XM_011532474.1:c.3976A>C	XP_011530776.1:p.Lys1326Gln
XM_017003117.1:c.3823A>C	XP_016858606.1:p.Lys1275Gln
XR_002958896.1:n.4018A>C
NM_133259.4:c.3976A>C MANE Select	NP_573566.2:p.Lys1326Gln