Canonical Allele Identifier: CA425909291

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 753314
• ClinVar RCV Id: RCV000930539
• dbSNP Id: rs766438533
• MyVariant Identifiers: chr2:g.44126439A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899300A>G , CM000664.2:g.43899300A>G	GRCh38
NC_000002.11:g.44126439A>G , CM000664.1:g.44126439A>G	GRCh37
NC_000002.10:g.43979943A>G	NCBI36
NG_008247.1:g.101706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.175T>C
ENST00000472420.6:n.823T>C
ENST00000483489.2:n.175T>C
ENST00000681993.1:n.1296T>C
ENST00000682303.1:c.*3530T>C	ENSP00000508325.1:n.*3530T>C
ENST00000682308.1:c.3744T>C	ENSP00000507056.1:p.Phe1248=
ENST00000682434.1:n.1295T>C
ENST00000682480.1:c.3762T>C	ENSP00000508344.1:p.Phe1254=
ENST00000682546.1:c.3741T>C	ENSP00000508188.1:p.Phe1247=
ENST00000682585.1:c.3744T>C	ENSP00000506885.1:p.Phe1248=
ENST00000682595.1:n.4328T>C
ENST00000682607.1:c.2162T>C
ENST00000682612.1:c.596T>C
ENST00000682779.1:c.3735T>C	ENSP00000507947.1:p.Phe1245=
ENST00000682845.1:n.2846T>C
ENST00000682885.1:c.3699T>C	ENSP00000508036.1:p.Phe1233=
ENST00000682933.1:n.3818T>C
ENST00000683002.1:c.596T>C
ENST00000683072.1:n.4328T>C
ENST00000683080.1:n.1363T>C
ENST00000683125.1:c.3852T>C	ENSP00000507939.1:p.Phe1284=
ENST00000683213.1:c.3747T>C	ENSP00000507751.1:p.Phe1249=
ENST00000683220.1:c.3774T>C	ENSP00000507151.1:p.Phe1258=
ENST00000683329.1:n.4547T>C
ENST00000683346.1:c.*3619T>C	ENSP00000507458.1:n.*3619T>C
ENST00000683409.1:n.2351T>C
ENST00000683459.1:n.4331T>C
ENST00000683528.1:c.672T>C
ENST00000683590.1:c.3492T>C	ENSP00000506820.1:p.Phe1164=
ENST00000683623.1:c.3651T>C	ENSP00000507702.1:p.Phe1217=
ENST00000683645.1:n.4295T>C
ENST00000683796.1:c.*3616T>C	ENSP00000508221.1:n.*3616T>C
ENST00000683802.1:n.6669T>C
ENST00000683833.1:c.3735T>C	ENSP00000506852.1:p.Phe1245=
ENST00000683994.1:c.3744T>C	ENSP00000507181.1:p.Phe1248=
ENST00000684290.1:c.*1280T>C	ENSP00000507243.1:n.*1280T>C
ENST00000684306.1:c.*3657T>C	ENSP00000508384.1:n.*3657T>C
ENST00000684341.1:n.3764T>C
ENST00000684383.1:c.*3382T>C	ENSP00000506863.1:n.*3382T>C
ENST00000684418.1:n.4925T>C
ENST00000684433.1:n.128T>C
ENST00000684454.1:n.3094T>C
ENST00000684619.1:c.*3616T>C	ENSP00000508088.1:n.*3616T>C
ENST00000684743.1:n.6489T>C
ENST00000260665.12:c.3744T>C MANE Select	ENSP00000260665.7:p.Phe1248=
ENST00000260665.11:c.3744T>C	ENSP00000260665.7:p.Phe1248=
ENST00000463456.5:n.2787T>C
ENST00000472420.5:n.141T>C
ENST00000483489.1:n.218T>C
NM_133259.3:c.3744T>C	NP_573566.2:p.Phe1248=
XM_006711915.2:c.3666T>C	XP_006711978.1:p.Phe1222=
XM_011532473.1:c.3744T>C	XP_011530775.1:p.Phe1248=
XM_011532474.1:c.3744T>C	XP_011530776.1:p.Phe1248=
XM_017003117.1:c.3666T>C	XP_016858606.1:p.Phe1222=
XR_002958896.1:n.3786T>C
NM_133259.4:c.3744T>C MANE Select	NP_573566.2:p.Phe1248=