Canonical Allele Identifier: CA346674849

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121738T>A (hg19) ; chr2:g.43894599T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894599T>A , CM000664.2:g.43894599T>A	GRCh38
NC_000002.11:g.44121738T>A , CM000664.1:g.44121738T>A	GRCh37
NC_000002.10:g.43975242T>A	NCBI36
NG_008247.1:g.106407A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.561A>T
ENST00000681993.1:n.1483A>T
ENST00000682154.1:n.1365A>T
ENST00000682303.1:c.*3642A>T	ENSP00000508325.1:n.*3642A>T
ENST00000682308.1:c.3856A>T	ENSP00000507056.1:p.Ile1286Phe
ENST00000682434.1:n.3486A>T
ENST00000682480.1:c.3949A>T	ENSP00000508344.1:p.Ile1317Phe
ENST00000682546.1:c.3928A>T	ENSP00000508188.1:p.Ile1310Phe
ENST00000682585.1:c.*59A>T	ENSP00000506885.1:n.*59A>T
ENST00000682607.1:c.2674A>T
ENST00000682612.1:c.752+2035A>T
ENST00000682696.1:c.31A>T	ENSP00000508411.1:p.Ile11Phe
ENST00000682779.1:c.3922A>T	ENSP00000507947.1:p.Ile1308Phe
ENST00000682885.1:c.3886A>T	ENSP00000508036.1:p.Ile1296Phe
ENST00000682933.1:n.4131A>T
ENST00000683002.1:c.783A>T
ENST00000683072.1:n.4515A>T
ENST00000683080.1:n.1550A>T
ENST00000683096.1:n.2372A>T
ENST00000683125.1:c.4039A>T	ENSP00000507939.1:p.Ile1347Phe
ENST00000683213.1:c.3934A>T	ENSP00000507751.1:p.Ile1312Phe
ENST00000683220.1:c.3961A>T	ENSP00000507151.1:p.Ile1321Phe
ENST00000683329.1:n.4734A>T
ENST00000683346.1:c.*3806A>T	ENSP00000507458.1:n.*3806A>T
ENST00000683409.1:n.2463A>T
ENST00000683459.1:n.4518A>T
ENST00000683590.1:c.3604A>T	ENSP00000506820.1:p.Ile1202Phe
ENST00000683623.1:c.3838A>T	ENSP00000507702.1:p.Ile1280Phe
ENST00000683796.1:c.*3728A>T	ENSP00000508221.1:n.*3728A>T
ENST00000683833.1:c.3847A>T	ENSP00000506852.1:p.Ile1283Phe
ENST00000683994.1:c.*44A>T	ENSP00000507181.1:n.*44A>T
ENST00000684290.1:c.*1392A>T	ENSP00000507243.1:n.*1392A>T
ENST00000684306.1:c.*3844A>T	ENSP00000508384.1:n.*3844A>T
ENST00000684383.1:c.*3569A>T	ENSP00000506863.1:n.*3569A>T
ENST00000684418.1:n.5112A>T
ENST00000684433.1:n.315A>T
ENST00000684454.1:n.7795A>T
ENST00000684619.1:c.*3803A>T	ENSP00000508088.1:n.*3803A>T
ENST00000684743.1:n.6676A>T
ENST00000260665.12:c.3931A>T MANE Select	ENSP00000260665.7:p.Ile1311Phe
ENST00000260665.11:c.3931A>T	ENSP00000260665.7:p.Ile1311Phe
ENST00000419884.5:c.172A>T	ENSP00000414207.1:p.Ile58Phe
ENST00000463456.5:n.2974A>T
NM_133259.3:c.3931A>T	NP_573566.2:p.Ile1311Phe
XM_006711915.2:c.3853A>T	XP_006711978.1:p.Ile1285Phe
XM_011532473.1:c.3856A>T	XP_011530775.1:p.Ile1286Phe
XM_011532474.1:c.3931A>T	XP_011530776.1:p.Ile1311Phe
XM_017003117.1:c.3778A>T	XP_016858606.1:p.Ile1260Phe
XR_002958896.1:n.3973A>T
NM_133259.4:c.3931A>T MANE Select	NP_573566.2:p.Ile1311Phe