Canonical Allele Identifier: CA346672782

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170917C>T (hg19) ; chr2:g.43943778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943778C>T , CM000664.2:g.43943778C>T	GRCh38
NC_000002.11:g.44170917C>T , CM000664.1:g.44170917C>T	GRCh37
NC_000002.10:g.44024421C>T	NCBI36
NG_008247.1:g.57228G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2413G>A	ENSP00000386562.2:p.Val805Ile
ENST00000447246.2:c.2413G>A	ENSP00000403637.2:p.Val805Ile
ENST00000681961.1:n.2433G>A
ENST00000682104.1:c.2287G>A	ENSP00000507716.1:p.Val763Ile
ENST00000682303.1:c.*2199G>A	ENSP00000508325.1:n.*2199G>A
ENST00000682308.1:c.2413G>A	ENSP00000507056.1:p.Val805Ile
ENST00000682480.1:c.2413G>A	ENSP00000508344.1:p.Val805Ile
ENST00000682546.1:c.2410G>A	ENSP00000508188.1:p.Val804Ile
ENST00000682585.1:c.2413G>A	ENSP00000506885.1:p.Val805Ile
ENST00000682595.1:n.2995G>A
ENST00000682607.1:c.831G>A
ENST00000682779.1:c.2404G>A	ENSP00000507947.1:p.Val802Ile
ENST00000682845.1:n.1515G>A
ENST00000682885.1:c.2368G>A	ENSP00000508036.1:p.Val790Ile
ENST00000682933.1:n.2487G>A
ENST00000683072.1:n.2995G>A
ENST00000683125.1:c.2413G>A	ENSP00000507939.1:p.Val805Ile
ENST00000683213.1:c.2416G>A	ENSP00000507751.1:p.Val806Ile
ENST00000683220.1:c.2443G>A	ENSP00000507151.1:p.Val815Ile
ENST00000683329.1:n.3216G>A
ENST00000683346.1:c.*2288G>A	ENSP00000507458.1:n.*2288G>A
ENST00000683459.1:n.3000G>A
ENST00000683590.1:c.2413G>A	ENSP00000506820.1:p.Val805Ile
ENST00000683623.1:c.2320G>A	ENSP00000507702.1:p.Val774Ile
ENST00000683645.1:n.2964G>A
ENST00000683694.1:n.1164G>A
ENST00000683796.1:c.*2285G>A	ENSP00000508221.1:n.*2285G>A
ENST00000683802.1:n.5338G>A
ENST00000683833.1:c.2404G>A	ENSP00000506852.1:p.Val802Ile
ENST00000683989.1:c.2413G>A	ENSP00000507510.1:p.Val805Ile
ENST00000683994.1:c.2413G>A	ENSP00000507181.1:p.Val805Ile
ENST00000684290.1:c.*107G>A	ENSP00000507243.1:n.*107G>A
ENST00000684306.1:c.*2326G>A	ENSP00000508384.1:n.*2326G>A
ENST00000684341.1:n.2433G>A
ENST00000684383.1:c.*2051G>A	ENSP00000506863.1:n.*2051G>A
ENST00000684397.1:c.117G>A
ENST00000684619.1:c.*2285G>A	ENSP00000508088.1:n.*2285G>A
ENST00000684743.1:n.3444G>A
ENST00000260665.12:c.2413G>A MANE Select	ENSP00000260665.7:p.Val805Ile
ENST00000260665.11:c.2413G>A	ENSP00000260665.7:p.Val805Ile
NM_133259.3:c.2413G>A	NP_573566.2:p.Val805Ile
XM_006711915.2:c.2335G>A	XP_006711978.1:p.Val779Ile
XM_006711916.2:c.2413G>A	XP_006711979.1:p.Val805Ile
XM_011532473.1:c.2413G>A	XP_011530775.1:p.Val805Ile
XM_011532474.1:c.2413G>A	XP_011530776.1:p.Val805Ile
XM_006711916.3:c.2413G>A	XP_006711979.1:p.Val805Ile
XM_017003117.1:c.2335G>A	XP_016858606.1:p.Val779Ile
XR_002958896.1:n.2455G>A
NM_133259.4:c.2413G>A MANE Select	NP_573566.2:p.Val805Ile