Canonical Allele Identifier: CA346668672

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1200804824
• gnomAD v2: 2-44145526-C-T
• gnomAD v4: 2-43918387-C-T
• MyVariant Identifiers: chr2:g.44145526C>T (hg19) ; chr2:g.43918387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918387C>T , CM000664.2:g.43918387C>T	GRCh38
NC_000002.11:g.44145526C>T , CM000664.1:g.44145526C>T	GRCh37
NC_000002.10:g.43999030C>T	NCBI36
NG_008247.1:g.82619G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.460G>A
ENST00000682295.1:c.172G>A	ENSP00000507499.1:p.Asp58Asn
ENST00000682303.1:c.*2694G>A	ENSP00000508325.1:n.*2694G>A
ENST00000682308.1:c.2908G>A	ENSP00000507056.1:p.Asp970Asn
ENST00000682480.1:c.2908G>A	ENSP00000508344.1:p.Asp970Asn
ENST00000682546.1:c.2905G>A	ENSP00000508188.1:p.Asp969Asn
ENST00000682585.1:c.2908G>A	ENSP00000506885.1:p.Asp970Asn
ENST00000682595.1:n.3492G>A
ENST00000682607.1:c.1326G>A
ENST00000682779.1:c.2899G>A	ENSP00000507947.1:p.Asp967Asn
ENST00000682845.1:n.2010G>A
ENST00000682885.1:c.2863G>A	ENSP00000508036.1:p.Asp955Asn
ENST00000682933.1:n.2982G>A
ENST00000683072.1:n.3492G>A
ENST00000683080.1:n.527G>A
ENST00000683125.1:c.3016G>A	ENSP00000507939.1:p.Asp1006Asn
ENST00000683213.1:c.2911G>A	ENSP00000507751.1:p.Asp971Asn
ENST00000683220.1:c.2938G>A	ENSP00000507151.1:p.Asp980Asn
ENST00000683236.1:c.238G>A	ENSP00000506891.1:n.238G>A
ENST00000683329.1:n.3711G>A
ENST00000683346.1:c.*2783G>A	ENSP00000507458.1:n.*2783G>A
ENST00000683409.1:n.1515G>A
ENST00000683459.1:n.3495G>A
ENST00000683590.1:c.2897-5829G>A	ENSP00000506820.1:n.2897-5829G>A
ENST00000683623.1:c.2815G>A	ENSP00000507702.1:p.Asp939Asn
ENST00000683645.1:n.3459G>A
ENST00000683796.1:c.*2780G>A	ENSP00000508221.1:n.*2780G>A
ENST00000683802.1:n.5833G>A
ENST00000683833.1:c.2899G>A	ENSP00000506852.1:p.Asp967Asn
ENST00000683994.1:c.2908G>A	ENSP00000507181.1:p.Asp970Asn
ENST00000684290.1:c.*444G>A	ENSP00000507243.1:n.*444G>A
ENST00000684306.1:c.*2821G>A	ENSP00000508384.1:n.*2821G>A
ENST00000684341.1:n.2928G>A
ENST00000684383.1:c.*2546G>A	ENSP00000506863.1:n.*2546G>A
ENST00000684619.1:c.*2780G>A	ENSP00000508088.1:n.*2780G>A
ENST00000684705.1:n.29G>A
ENST00000684743.1:n.3939G>A
ENST00000260665.12:c.2908G>A MANE Select	ENSP00000260665.7:p.Asp970Asn
ENST00000260665.11:c.2908G>A	ENSP00000260665.7:p.Asp970Asn
NM_133259.3:c.2908G>A	NP_573566.2:p.Asp970Asn
XM_006711915.2:c.2830G>A	XP_006711978.1:p.Asp944Asn
XM_006711916.2:c.2908G>A	XP_006711979.1:p.Asp970Asn
XM_011532473.1:c.2908G>A	XP_011530775.1:p.Asp970Asn
XM_011532474.1:c.2908G>A	XP_011530776.1:p.Asp970Asn
XM_006711916.3:c.2908G>A	XP_006711979.1:p.Asp970Asn
XM_017003117.1:c.2830G>A	XP_016858606.1:p.Asp944Asn
XR_002958896.1:n.2950G>A
NM_133259.4:c.2908G>A MANE Select	NP_573566.2:p.Asp970Asn