Canonical Allele Identifier: CA346673504

Gene: LRPPRC

Linked Data

• dbSNP Id: rs370993030
• gnomAD v2: 2-44171031-C-T
• gnomAD v4: 2-43943892-C-T
• COSMIC: COSM3185125
• MyVariant Identifiers: chr2:g.44171031C>T (hg19) ; chr2:g.43943892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943892C>T , CM000664.2:g.43943892C>T	GRCh38
NC_000002.11:g.44171031C>T , CM000664.1:g.44171031C>T	GRCh37
NC_000002.10:g.44024535C>T	NCBI36
NG_008247.1:g.57114G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2299G>A	ENSP00000386562.2:p.Ala767Thr
ENST00000447246.2:c.2299G>A	ENSP00000403637.2:p.Ala767Thr
ENST00000681961.1:n.2319G>A
ENST00000682104.1:c.2173G>A	ENSP00000507716.1:p.Ala725Thr
ENST00000682303.1:c.*2085G>A	ENSP00000508325.1:n.*2085G>A
ENST00000682308.1:c.2299G>A	ENSP00000507056.1:p.Ala767Thr
ENST00000682480.1:c.2299G>A	ENSP00000508344.1:p.Ala767Thr
ENST00000682546.1:c.2296G>A	ENSP00000508188.1:p.Ala766Thr
ENST00000682585.1:c.2299G>A	ENSP00000506885.1:p.Ala767Thr
ENST00000682595.1:n.2881G>A
ENST00000682607.1:c.717G>A
ENST00000682779.1:c.2290G>A	ENSP00000507947.1:p.Ala764Thr
ENST00000682845.1:n.1401G>A
ENST00000682885.1:c.2254G>A	ENSP00000508036.1:p.Ala752Thr
ENST00000682933.1:n.2373G>A
ENST00000683072.1:n.2881G>A
ENST00000683125.1:c.2299G>A	ENSP00000507939.1:p.Ala767Thr
ENST00000683213.1:c.2302G>A	ENSP00000507751.1:p.Ala768Thr
ENST00000683220.1:c.2329G>A	ENSP00000507151.1:p.Ala777Thr
ENST00000683329.1:n.3102G>A
ENST00000683346.1:c.*2174G>A	ENSP00000507458.1:n.*2174G>A
ENST00000683459.1:n.2886G>A
ENST00000683590.1:c.2299G>A	ENSP00000506820.1:p.Ala767Thr
ENST00000683623.1:c.2297-91G>A	ENSP00000507702.1:n.2297-91G>A
ENST00000683645.1:n.2850G>A
ENST00000683694.1:n.1050G>A
ENST00000683796.1:c.*2171G>A	ENSP00000508221.1:n.*2171G>A
ENST00000683802.1:n.5224G>A
ENST00000683833.1:c.2290G>A	ENSP00000506852.1:p.Ala764Thr
ENST00000683989.1:c.2299G>A	ENSP00000507510.1:p.Ala767Thr
ENST00000683994.1:c.2299G>A	ENSP00000507181.1:p.Ala767Thr
ENST00000684290.1:c.2213G>A	ENSP00000507243.1:p.Cys738Tyr
ENST00000684306.1:c.*2212G>A	ENSP00000508384.1:n.*2212G>A
ENST00000684341.1:n.2319G>A
ENST00000684383.1:c.*1937G>A	ENSP00000506863.1:n.*1937G>A
ENST00000684397.1:c.3G>A
ENST00000684619.1:c.*2171G>A	ENSP00000508088.1:n.*2171G>A
ENST00000684743.1:n.3330G>A
ENST00000260665.12:c.2299G>A MANE Select	ENSP00000260665.7:p.Ala767Thr
ENST00000260665.11:c.2299G>A	ENSP00000260665.7:p.Ala767Thr
NM_133259.3:c.2299G>A	NP_573566.2:p.Ala767Thr
XM_006711915.2:c.2221G>A	XP_006711978.1:p.Ala741Thr
XM_006711916.2:c.2299G>A	XP_006711979.1:p.Ala767Thr
XM_011532473.1:c.2299G>A	XP_011530775.1:p.Ala767Thr
XM_011532474.1:c.2299G>A	XP_011530776.1:p.Ala767Thr
XM_006711916.3:c.2299G>A	XP_006711979.1:p.Ala767Thr
XM_017003117.1:c.2221G>A	XP_016858606.1:p.Ala741Thr
XR_002958896.1:n.2341G>A
NM_133259.4:c.2299G>A MANE Select	NP_573566.2:p.Ala767Thr