Canonical Allele Identifier: CA346674748

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894559-A-G
• MyVariant Identifiers: chr2:g.44121698A>G (hg19) ; chr2:g.43894559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894559A>G , CM000664.2:g.43894559A>G	GRCh38
NC_000002.11:g.44121698A>G , CM000664.1:g.44121698A>G	GRCh37
NC_000002.10:g.43975202A>G	NCBI36
NG_008247.1:g.106447T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.601T>C
ENST00000681993.1:n.1523T>C
ENST00000682154.1:n.1405T>C
ENST00000682303.1:c.*3682T>C	ENSP00000508325.1:n.*3682T>C
ENST00000682308.1:c.3896T>C	ENSP00000507056.1:p.Leu1299Pro
ENST00000682434.1:n.3526T>C
ENST00000682480.1:c.3989T>C	ENSP00000508344.1:p.Leu1330Pro
ENST00000682546.1:c.3968T>C	ENSP00000508188.1:p.Leu1323Pro
ENST00000682585.1:c.*99T>C	ENSP00000506885.1:n.*99T>C
ENST00000682607.1:c.2714T>C
ENST00000682612.1:c.752+2075T>C
ENST00000682696.1:c.71T>C	ENSP00000508411.1:p.Leu24Pro
ENST00000682779.1:c.3962T>C	ENSP00000507947.1:p.Leu1321Pro
ENST00000682885.1:c.3926T>C	ENSP00000508036.1:p.Leu1309Pro
ENST00000682933.1:n.4171T>C
ENST00000683002.1:c.823T>C
ENST00000683072.1:n.4555T>C
ENST00000683080.1:n.1590T>C
ENST00000683096.1:n.2412T>C
ENST00000683125.1:c.4079T>C	ENSP00000507939.1:p.Leu1360Pro
ENST00000683213.1:c.3974T>C	ENSP00000507751.1:p.Leu1325Pro
ENST00000683220.1:c.4001T>C	ENSP00000507151.1:p.Leu1334Pro
ENST00000683329.1:n.4774T>C
ENST00000683346.1:c.*3846T>C	ENSP00000507458.1:n.*3846T>C
ENST00000683409.1:n.2503T>C
ENST00000683459.1:n.4558T>C
ENST00000683590.1:c.3644T>C	ENSP00000506820.1:p.Leu1215Pro
ENST00000683623.1:c.3878T>C	ENSP00000507702.1:p.Leu1293Pro
ENST00000683796.1:c.*3768T>C	ENSP00000508221.1:n.*3768T>C
ENST00000683833.1:c.3887T>C	ENSP00000506852.1:p.Leu1296Pro
ENST00000683994.1:c.*84T>C	ENSP00000507181.1:n.*84T>C
ENST00000684290.1:c.*1432T>C	ENSP00000507243.1:n.*1432T>C
ENST00000684306.1:c.*3884T>C	ENSP00000508384.1:n.*3884T>C
ENST00000684383.1:c.*3609T>C	ENSP00000506863.1:n.*3609T>C
ENST00000684418.1:n.5152T>C
ENST00000684433.1:n.355T>C
ENST00000684454.1:n.7835T>C
ENST00000684619.1:c.*3843T>C	ENSP00000508088.1:n.*3843T>C
ENST00000684743.1:n.6716T>C
ENST00000260665.12:c.3971T>C MANE Select	ENSP00000260665.7:p.Leu1324Pro
ENST00000260665.11:c.3971T>C	ENSP00000260665.7:p.Leu1324Pro
ENST00000419884.5:c.212T>C	ENSP00000414207.1:p.Leu71Pro
ENST00000463456.5:n.3014T>C
NM_133259.3:c.3971T>C	NP_573566.2:p.Leu1324Pro
XM_006711915.2:c.3893T>C	XP_006711978.1:p.Leu1298Pro
XM_011532473.1:c.3896T>C	XP_011530775.1:p.Leu1299Pro
XM_011532474.1:c.3971T>C	XP_011530776.1:p.Leu1324Pro
XM_017003117.1:c.3818T>C	XP_016858606.1:p.Leu1273Pro
XR_002958896.1:n.4013T>C
NM_133259.4:c.3971T>C MANE Select	NP_573566.2:p.Leu1324Pro