Canonical Allele Identifier: CA346676329

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126362A>T (hg19) ; chr2:g.43899223A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899223A>T , CM000664.2:g.43899223A>T	GRCh38
NC_000002.11:g.44126362A>T , CM000664.1:g.44126362A>T	GRCh37
NC_000002.10:g.43979866A>T	NCBI36
NG_008247.1:g.101783T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.252T>A
ENST00000472420.6:n.900T>A
ENST00000483489.2:n.252T>A
ENST00000681993.1:n.1373T>A
ENST00000682303.1:c.*3607T>A	ENSP00000508325.1:n.*3607T>A
ENST00000682308.1:c.3821T>A	ENSP00000507056.1:p.Leu1274Gln
ENST00000682434.1:n.1372T>A
ENST00000682480.1:c.3839T>A	ENSP00000508344.1:p.Leu1280Gln
ENST00000682546.1:c.3818T>A	ENSP00000508188.1:p.Leu1273Gln
ENST00000682585.1:c.3821T>A	ENSP00000506885.1:p.Leu1274Gln
ENST00000682595.1:n.4405T>A
ENST00000682607.1:c.2239T>A
ENST00000682612.1:c.673T>A
ENST00000682779.1:c.3812T>A	ENSP00000507947.1:p.Leu1271Gln
ENST00000682885.1:c.3776T>A	ENSP00000508036.1:p.Leu1259Gln
ENST00000682933.1:n.3895T>A
ENST00000683002.1:c.673T>A
ENST00000683072.1:n.4405T>A
ENST00000683080.1:n.1440T>A
ENST00000683125.1:c.3929T>A	ENSP00000507939.1:p.Leu1310Gln
ENST00000683213.1:c.3824T>A	ENSP00000507751.1:p.Leu1275Gln
ENST00000683220.1:c.3851T>A	ENSP00000507151.1:p.Leu1284Gln
ENST00000683329.1:n.4624T>A
ENST00000683346.1:c.*3696T>A	ENSP00000507458.1:n.*3696T>A
ENST00000683409.1:n.2428T>A
ENST00000683459.1:n.4408T>A
ENST00000683528.1:c.749T>A
ENST00000683590.1:c.3569T>A	ENSP00000506820.1:p.Leu1190Gln
ENST00000683623.1:c.3728T>A	ENSP00000507702.1:p.Leu1243Gln
ENST00000683645.1:n.4372T>A
ENST00000683796.1:c.*3693T>A	ENSP00000508221.1:n.*3693T>A
ENST00000683833.1:c.3812T>A	ENSP00000506852.1:p.Leu1271Gln
ENST00000683994.1:c.3821T>A	ENSP00000507181.1:p.Leu1274Gln
ENST00000684290.1:c.*1357T>A	ENSP00000507243.1:n.*1357T>A
ENST00000684306.1:c.*3734T>A	ENSP00000508384.1:n.*3734T>A
ENST00000684341.1:n.3841T>A
ENST00000684383.1:c.*3459T>A	ENSP00000506863.1:n.*3459T>A
ENST00000684418.1:n.5002T>A
ENST00000684433.1:n.205T>A
ENST00000684454.1:n.3171T>A
ENST00000684619.1:c.*3693T>A	ENSP00000508088.1:n.*3693T>A
ENST00000684743.1:n.6566T>A
ENST00000260665.12:c.3821T>A MANE Select	ENSP00000260665.7:p.Leu1274Gln
ENST00000260665.11:c.3821T>A	ENSP00000260665.7:p.Leu1274Gln
ENST00000419884.5:c.62T>A	ENSP00000414207.1:p.Leu21Gln
ENST00000463456.5:n.2864T>A
ENST00000472420.5:n.218T>A
ENST00000483489.1:n.295T>A
NM_133259.3:c.3821T>A	NP_573566.2:p.Leu1274Gln
XM_006711915.2:c.3743T>A	XP_006711978.1:p.Leu1248Gln
XM_011532473.1:c.3821T>A	XP_011530775.1:p.Leu1274Gln
XM_011532474.1:c.3821T>A	XP_011530776.1:p.Leu1274Gln
XM_017003117.1:c.3743T>A	XP_016858606.1:p.Leu1248Gln
XR_002958896.1:n.3863T>A
NM_133259.4:c.3821T>A MANE Select	NP_573566.2:p.Leu1274Gln