Canonical Allele Identifier: CA346676657

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126441A>T (hg19) ; chr2:g.43899302A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899302A>T , CM000664.2:g.43899302A>T	GRCh38
NC_000002.11:g.44126441A>T , CM000664.1:g.44126441A>T	GRCh37
NC_000002.10:g.43979945A>T	NCBI36
NG_008247.1:g.101704T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.173T>A
ENST00000472420.6:n.821T>A
ENST00000483489.2:n.173T>A
ENST00000681993.1:n.1294T>A
ENST00000682303.1:c.*3528T>A	ENSP00000508325.1:n.*3528T>A
ENST00000682308.1:c.3742T>A	ENSP00000507056.1:p.Phe1248Ile
ENST00000682434.1:n.1293T>A
ENST00000682480.1:c.3760T>A	ENSP00000508344.1:p.Phe1254Ile
ENST00000682546.1:c.3739T>A	ENSP00000508188.1:p.Phe1247Ile
ENST00000682585.1:c.3742T>A	ENSP00000506885.1:p.Phe1248Ile
ENST00000682595.1:n.4326T>A
ENST00000682607.1:c.2160T>A
ENST00000682612.1:c.594T>A
ENST00000682779.1:c.3733T>A	ENSP00000507947.1:p.Phe1245Ile
ENST00000682845.1:n.2844T>A
ENST00000682885.1:c.3697T>A	ENSP00000508036.1:p.Phe1233Ile
ENST00000682933.1:n.3816T>A
ENST00000683002.1:c.594T>A
ENST00000683072.1:n.4326T>A
ENST00000683080.1:n.1361T>A
ENST00000683125.1:c.3850T>A	ENSP00000507939.1:p.Phe1284Ile
ENST00000683213.1:c.3745T>A	ENSP00000507751.1:p.Phe1249Ile
ENST00000683220.1:c.3772T>A	ENSP00000507151.1:p.Phe1258Ile
ENST00000683329.1:n.4545T>A
ENST00000683346.1:c.*3617T>A	ENSP00000507458.1:n.*3617T>A
ENST00000683409.1:n.2349T>A
ENST00000683459.1:n.4329T>A
ENST00000683528.1:c.670T>A
ENST00000683590.1:c.3490T>A	ENSP00000506820.1:p.Phe1164Ile
ENST00000683623.1:c.3649T>A	ENSP00000507702.1:p.Phe1217Ile
ENST00000683645.1:n.4293T>A
ENST00000683796.1:c.*3614T>A	ENSP00000508221.1:n.*3614T>A
ENST00000683802.1:n.6667T>A
ENST00000683833.1:c.3733T>A	ENSP00000506852.1:p.Phe1245Ile
ENST00000683994.1:c.3742T>A	ENSP00000507181.1:p.Phe1248Ile
ENST00000684290.1:c.*1278T>A	ENSP00000507243.1:n.*1278T>A
ENST00000684306.1:c.*3655T>A	ENSP00000508384.1:n.*3655T>A
ENST00000684341.1:n.3762T>A
ENST00000684383.1:c.*3380T>A	ENSP00000506863.1:n.*3380T>A
ENST00000684418.1:n.4923T>A
ENST00000684433.1:n.126T>A
ENST00000684454.1:n.3092T>A
ENST00000684619.1:c.*3614T>A	ENSP00000508088.1:n.*3614T>A
ENST00000684743.1:n.6487T>A
ENST00000260665.12:c.3742T>A MANE Select	ENSP00000260665.7:p.Phe1248Ile
ENST00000260665.11:c.3742T>A	ENSP00000260665.7:p.Phe1248Ile
ENST00000463456.5:n.2785T>A
ENST00000472420.5:n.139T>A
ENST00000483489.1:n.216T>A
NM_133259.3:c.3742T>A	NP_573566.2:p.Phe1248Ile
XM_006711915.2:c.3664T>A	XP_006711978.1:p.Phe1222Ile
XM_011532473.1:c.3742T>A	XP_011530775.1:p.Phe1248Ile
XM_011532474.1:c.3742T>A	XP_011530776.1:p.Phe1248Ile
XM_017003117.1:c.3664T>A	XP_016858606.1:p.Phe1222Ile
XR_002958896.1:n.3784T>A
NM_133259.4:c.3742T>A MANE Select	NP_573566.2:p.Phe1248Ile