Canonical Allele Identifier: CA346676530

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899271-A-T
• MyVariant Identifiers: chr2:g.44126410A>T (hg19) ; chr2:g.43899271A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899271A>T , CM000664.2:g.43899271A>T	GRCh38
NC_000002.11:g.44126410A>T , CM000664.1:g.44126410A>T	GRCh37
NC_000002.10:g.43979914A>T	NCBI36
NG_008247.1:g.101735T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.204T>A
ENST00000472420.6:n.852T>A
ENST00000483489.2:n.204T>A
ENST00000681993.1:n.1325T>A
ENST00000682303.1:c.*3559T>A	ENSP00000508325.1:n.*3559T>A
ENST00000682308.1:c.3773T>A	ENSP00000507056.1:p.Phe1258Tyr
ENST00000682434.1:n.1324T>A
ENST00000682480.1:c.3791T>A	ENSP00000508344.1:p.Phe1264Tyr
ENST00000682546.1:c.3770T>A	ENSP00000508188.1:p.Phe1257Tyr
ENST00000682585.1:c.3773T>A	ENSP00000506885.1:p.Phe1258Tyr
ENST00000682595.1:n.4357T>A
ENST00000682607.1:c.2191T>A
ENST00000682612.1:c.625T>A
ENST00000682779.1:c.3764T>A	ENSP00000507947.1:p.Phe1255Tyr
ENST00000682845.1:n.2875T>A
ENST00000682885.1:c.3728T>A	ENSP00000508036.1:p.Phe1243Tyr
ENST00000682933.1:n.3847T>A
ENST00000683002.1:c.625T>A
ENST00000683072.1:n.4357T>A
ENST00000683080.1:n.1392T>A
ENST00000683125.1:c.3881T>A	ENSP00000507939.1:p.Phe1294Tyr
ENST00000683213.1:c.3776T>A	ENSP00000507751.1:p.Phe1259Tyr
ENST00000683220.1:c.3803T>A	ENSP00000507151.1:p.Phe1268Tyr
ENST00000683329.1:n.4576T>A
ENST00000683346.1:c.*3648T>A	ENSP00000507458.1:n.*3648T>A
ENST00000683409.1:n.2380T>A
ENST00000683459.1:n.4360T>A
ENST00000683528.1:c.701T>A
ENST00000683590.1:c.3521T>A	ENSP00000506820.1:p.Phe1174Tyr
ENST00000683623.1:c.3680T>A	ENSP00000507702.1:p.Phe1227Tyr
ENST00000683645.1:n.4324T>A
ENST00000683796.1:c.*3645T>A	ENSP00000508221.1:n.*3645T>A
ENST00000683802.1:n.6698T>A
ENST00000683833.1:c.3764T>A	ENSP00000506852.1:p.Phe1255Tyr
ENST00000683994.1:c.3773T>A	ENSP00000507181.1:p.Phe1258Tyr
ENST00000684290.1:c.*1309T>A	ENSP00000507243.1:n.*1309T>A
ENST00000684306.1:c.*3686T>A	ENSP00000508384.1:n.*3686T>A
ENST00000684341.1:n.3793T>A
ENST00000684383.1:c.*3411T>A	ENSP00000506863.1:n.*3411T>A
ENST00000684418.1:n.4954T>A
ENST00000684433.1:n.157T>A
ENST00000684454.1:n.3123T>A
ENST00000684619.1:c.*3645T>A	ENSP00000508088.1:n.*3645T>A
ENST00000684743.1:n.6518T>A
ENST00000260665.12:c.3773T>A MANE Select	ENSP00000260665.7:p.Phe1258Tyr
ENST00000260665.11:c.3773T>A	ENSP00000260665.7:p.Phe1258Tyr
ENST00000419884.5:c.14T>A	ENSP00000414207.1:p.Phe5Tyr
ENST00000463456.5:n.2816T>A
ENST00000472420.5:n.170T>A
ENST00000483489.1:n.247T>A
NM_133259.3:c.3773T>A	NP_573566.2:p.Phe1258Tyr
XM_006711915.2:c.3695T>A	XP_006711978.1:p.Phe1232Tyr
XM_011532473.1:c.3773T>A	XP_011530775.1:p.Phe1258Tyr
XM_011532474.1:c.3773T>A	XP_011530776.1:p.Phe1258Tyr
XM_017003117.1:c.3695T>A	XP_016858606.1:p.Phe1232Tyr
XR_002958896.1:n.3815T>A
NM_133259.4:c.3773T>A MANE Select	NP_573566.2:p.Phe1258Tyr