Canonical Allele Identifier: CA346676523

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670802437
• MyVariant Identifiers: chr2:g.44126409G>T (hg19) ; chr2:g.43899270G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899270G>T , CM000664.2:g.43899270G>T	GRCh38
NC_000002.11:g.44126409G>T , CM000664.1:g.44126409G>T	GRCh37
NC_000002.10:g.43979913G>T	NCBI36
NG_008247.1:g.101736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.205C>A
ENST00000472420.6:n.853C>A
ENST00000483489.2:n.205C>A
ENST00000681993.1:n.1326C>A
ENST00000682303.1:c.*3560C>A	ENSP00000508325.1:n.*3560C>A
ENST00000682308.1:c.3774C>A	ENSP00000507056.1:p.Phe1258Leu
ENST00000682434.1:n.1325C>A
ENST00000682480.1:c.3792C>A	ENSP00000508344.1:p.Phe1264Leu
ENST00000682546.1:c.3771C>A	ENSP00000508188.1:p.Phe1257Leu
ENST00000682585.1:c.3774C>A	ENSP00000506885.1:p.Phe1258Leu
ENST00000682595.1:n.4358C>A
ENST00000682607.1:c.2192C>A
ENST00000682612.1:c.626C>A
ENST00000682779.1:c.3765C>A	ENSP00000507947.1:p.Phe1255Leu
ENST00000682845.1:n.2876C>A
ENST00000682885.1:c.3729C>A	ENSP00000508036.1:p.Phe1243Leu
ENST00000682933.1:n.3848C>A
ENST00000683002.1:c.626C>A
ENST00000683072.1:n.4358C>A
ENST00000683080.1:n.1393C>A
ENST00000683125.1:c.3882C>A	ENSP00000507939.1:p.Phe1294Leu
ENST00000683213.1:c.3777C>A	ENSP00000507751.1:p.Phe1259Leu
ENST00000683220.1:c.3804C>A	ENSP00000507151.1:p.Phe1268Leu
ENST00000683329.1:n.4577C>A
ENST00000683346.1:c.*3649C>A	ENSP00000507458.1:n.*3649C>A
ENST00000683409.1:n.2381C>A
ENST00000683459.1:n.4361C>A
ENST00000683528.1:c.702C>A
ENST00000683590.1:c.3522C>A	ENSP00000506820.1:p.Phe1174Leu
ENST00000683623.1:c.3681C>A	ENSP00000507702.1:p.Phe1227Leu
ENST00000683645.1:n.4325C>A
ENST00000683796.1:c.*3646C>A	ENSP00000508221.1:n.*3646C>A
ENST00000683802.1:n.6699C>A
ENST00000683833.1:c.3765C>A	ENSP00000506852.1:p.Phe1255Leu
ENST00000683994.1:c.3774C>A	ENSP00000507181.1:p.Phe1258Leu
ENST00000684290.1:c.*1310C>A	ENSP00000507243.1:n.*1310C>A
ENST00000684306.1:c.*3687C>A	ENSP00000508384.1:n.*3687C>A
ENST00000684341.1:n.3794C>A
ENST00000684383.1:c.*3412C>A	ENSP00000506863.1:n.*3412C>A
ENST00000684418.1:n.4955C>A
ENST00000684433.1:n.158C>A
ENST00000684454.1:n.3124C>A
ENST00000684619.1:c.*3646C>A	ENSP00000508088.1:n.*3646C>A
ENST00000684743.1:n.6519C>A
ENST00000260665.12:c.3774C>A MANE Select	ENSP00000260665.7:p.Phe1258Leu
ENST00000260665.11:c.3774C>A	ENSP00000260665.7:p.Phe1258Leu
ENST00000419884.5:c.15C>A	ENSP00000414207.1:p.Phe5Leu
ENST00000463456.5:n.2817C>A
ENST00000472420.5:n.171C>A
ENST00000483489.1:n.248C>A
NM_133259.3:c.3774C>A	NP_573566.2:p.Phe1258Leu
XM_006711915.2:c.3696C>A	XP_006711978.1:p.Phe1232Leu
XM_011532473.1:c.3774C>A	XP_011530775.1:p.Phe1258Leu
XM_011532474.1:c.3774C>A	XP_011530776.1:p.Phe1258Leu
XM_017003117.1:c.3696C>A	XP_016858606.1:p.Phe1232Leu
XR_002958896.1:n.3816C>A
NM_133259.4:c.3774C>A MANE Select	NP_573566.2:p.Phe1258Leu