Canonical Allele Identifier: CA346668618

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1378161506
• gnomAD v2: 2-44145502-A-G
• gnomAD v4: 2-43918363-A-G
• MyVariant Identifiers: chr2:g.44145502A>G (hg19) ; chr2:g.43918363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918363A>G , CM000664.2:g.43918363A>G	GRCh38
NC_000002.11:g.44145502A>G , CM000664.1:g.44145502A>G	GRCh37
NC_000002.10:g.43999006A>G	NCBI36
NG_008247.1:g.82643T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.484T>C
ENST00000682295.1:c.196T>C	ENSP00000507499.1:p.Trp66Arg
ENST00000682303.1:c.*2718T>C	ENSP00000508325.1:n.*2718T>C
ENST00000682308.1:c.2932T>C	ENSP00000507056.1:p.Trp978Arg
ENST00000682480.1:c.2932T>C	ENSP00000508344.1:p.Trp978Arg
ENST00000682546.1:c.2929T>C	ENSP00000508188.1:p.Trp977Arg
ENST00000682585.1:c.2932T>C	ENSP00000506885.1:p.Trp978Arg
ENST00000682595.1:n.3516T>C
ENST00000682607.1:c.1350T>C
ENST00000682779.1:c.2923T>C	ENSP00000507947.1:p.Trp975Arg
ENST00000682845.1:n.2034T>C
ENST00000682885.1:c.2887T>C	ENSP00000508036.1:p.Trp963Arg
ENST00000682933.1:n.3006T>C
ENST00000683072.1:n.3516T>C
ENST00000683080.1:n.551T>C
ENST00000683125.1:c.3040T>C	ENSP00000507939.1:p.Trp1014Arg
ENST00000683213.1:c.2935T>C	ENSP00000507751.1:p.Trp979Arg
ENST00000683220.1:c.2962T>C	ENSP00000507151.1:p.Trp988Arg
ENST00000683236.1:c.262T>C	ENSP00000506891.1:n.262T>C
ENST00000683329.1:n.3735T>C
ENST00000683346.1:c.*2807T>C	ENSP00000507458.1:n.*2807T>C
ENST00000683409.1:n.1539T>C
ENST00000683459.1:n.3519T>C
ENST00000683590.1:c.2897-5805T>C	ENSP00000506820.1:n.2897-5805T>C
ENST00000683623.1:c.2839T>C	ENSP00000507702.1:p.Trp947Arg
ENST00000683645.1:n.3483T>C
ENST00000683796.1:c.*2804T>C	ENSP00000508221.1:n.*2804T>C
ENST00000683802.1:n.5857T>C
ENST00000683833.1:c.2923T>C	ENSP00000506852.1:p.Trp975Arg
ENST00000683994.1:c.2932T>C	ENSP00000507181.1:p.Trp978Arg
ENST00000684290.1:c.*468T>C	ENSP00000507243.1:n.*468T>C
ENST00000684306.1:c.*2845T>C	ENSP00000508384.1:n.*2845T>C
ENST00000684341.1:n.2952T>C
ENST00000684383.1:c.*2570T>C	ENSP00000506863.1:n.*2570T>C
ENST00000684619.1:c.*2804T>C	ENSP00000508088.1:n.*2804T>C
ENST00000684705.1:n.53T>C
ENST00000684743.1:n.3963T>C
ENST00000260665.12:c.2932T>C MANE Select	ENSP00000260665.7:p.Trp978Arg
ENST00000260665.11:c.2932T>C	ENSP00000260665.7:p.Trp978Arg
NM_133259.3:c.2932T>C	NP_573566.2:p.Trp978Arg
XM_006711915.2:c.2854T>C	XP_006711978.1:p.Trp952Arg
XM_006711916.2:c.2932T>C	XP_006711979.1:p.Trp978Arg
XM_011532473.1:c.2932T>C	XP_011530775.1:p.Trp978Arg
XM_011532474.1:c.2932T>C	XP_011530776.1:p.Trp978Arg
XM_006711916.3:c.2932T>C	XP_006711979.1:p.Trp978Arg
XM_017003117.1:c.2854T>C	XP_016858606.1:p.Trp952Arg
XR_002958896.1:n.2974T>C
NM_133259.4:c.2932T>C MANE Select	NP_573566.2:p.Trp978Arg