Canonical Allele Identifier: CA346674915

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121754T>G (hg19) ; chr2:g.43894615T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894615T>G , CM000664.2:g.43894615T>G	GRCh38
NC_000002.11:g.44121754T>G , CM000664.1:g.44121754T>G	GRCh37
NC_000002.10:g.43975258T>G	NCBI36
NG_008247.1:g.106391A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.545A>C
ENST00000681993.1:n.1467A>C
ENST00000682154.1:n.1349A>C
ENST00000682303.1:c.*3626A>C	ENSP00000508325.1:n.*3626A>C
ENST00000682308.1:c.3840A>C	ENSP00000507056.1:p.Lys1280Asn
ENST00000682434.1:n.3470A>C
ENST00000682480.1:c.3933A>C	ENSP00000508344.1:p.Lys1311Asn
ENST00000682546.1:c.3912A>C	ENSP00000508188.1:p.Lys1304Asn
ENST00000682585.1:c.*43A>C	ENSP00000506885.1:n.*43A>C
ENST00000682607.1:c.2658A>C
ENST00000682612.1:c.752+2019A>C
ENST00000682696.1:c.15A>C	ENSP00000508411.1:p.Lys5Asn
ENST00000682779.1:c.3906A>C	ENSP00000507947.1:p.Lys1302Asn
ENST00000682885.1:c.3870A>C	ENSP00000508036.1:p.Lys1290Asn
ENST00000682933.1:n.4115A>C
ENST00000683002.1:c.767A>C
ENST00000683072.1:n.4499A>C
ENST00000683080.1:n.1534A>C
ENST00000683096.1:n.2356A>C
ENST00000683125.1:c.4023A>C	ENSP00000507939.1:p.Lys1341Asn
ENST00000683213.1:c.3918A>C	ENSP00000507751.1:p.Lys1306Asn
ENST00000683220.1:c.3945A>C	ENSP00000507151.1:p.Lys1315Asn
ENST00000683329.1:n.4718A>C
ENST00000683346.1:c.*3790A>C	ENSP00000507458.1:n.*3790A>C
ENST00000683409.1:n.2447A>C
ENST00000683459.1:n.4502A>C
ENST00000683590.1:c.3588A>C	ENSP00000506820.1:p.Lys1196Asn
ENST00000683623.1:c.3822A>C	ENSP00000507702.1:p.Lys1274Asn
ENST00000683796.1:c.*3712A>C	ENSP00000508221.1:n.*3712A>C
ENST00000683833.1:c.3831A>C	ENSP00000506852.1:p.Lys1277Asn
ENST00000683994.1:c.*28A>C	ENSP00000507181.1:n.*28A>C
ENST00000684290.1:c.*1376A>C	ENSP00000507243.1:n.*1376A>C
ENST00000684306.1:c.*3828A>C	ENSP00000508384.1:n.*3828A>C
ENST00000684383.1:c.*3553A>C	ENSP00000506863.1:n.*3553A>C
ENST00000684418.1:n.5096A>C
ENST00000684433.1:n.299A>C
ENST00000684454.1:n.7779A>C
ENST00000684619.1:c.*3787A>C	ENSP00000508088.1:n.*3787A>C
ENST00000684743.1:n.6660A>C
ENST00000260665.12:c.3915A>C MANE Select	ENSP00000260665.7:p.Lys1305Asn
ENST00000260665.11:c.3915A>C	ENSP00000260665.7:p.Lys1305Asn
ENST00000419884.5:c.156A>C	ENSP00000414207.1:p.Lys52Asn
ENST00000463456.5:n.2958A>C
NM_133259.3:c.3915A>C	NP_573566.2:p.Lys1305Asn
XM_006711915.2:c.3837A>C	XP_006711978.1:p.Lys1279Asn
XM_011532473.1:c.3840A>C	XP_011530775.1:p.Lys1280Asn
XM_011532474.1:c.3915A>C	XP_011530776.1:p.Lys1305Asn
XM_017003117.1:c.3762A>C	XP_016858606.1:p.Lys1254Asn
XR_002958896.1:n.3957A>C
NM_133259.4:c.3915A>C MANE Select	NP_573566.2:p.Lys1305Asn