Canonical Allele Identifier: CA425909297

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2898510
• ClinVar RCV Id: RCV003726457
• gnomAD v4: 2-43899314-A-G
• MyVariant Identifiers: chr2:g.44126453A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899314A>G , CM000664.2:g.43899314A>G	GRCh38
NC_000002.11:g.44126453A>G , CM000664.1:g.44126453A>G	GRCh37
NC_000002.10:g.43979957A>G	NCBI36
NG_008247.1:g.101692T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.161T>C
ENST00000472420.6:n.809T>C
ENST00000483489.2:n.161T>C
ENST00000681993.1:n.1282T>C
ENST00000682303.1:c.*3516T>C	ENSP00000508325.1:n.*3516T>C
ENST00000682308.1:c.3730T>C	ENSP00000507056.1:p.Leu1244=
ENST00000682434.1:n.1281T>C
ENST00000682480.1:c.3748T>C	ENSP00000508344.1:p.Leu1250=
ENST00000682546.1:c.3727T>C	ENSP00000508188.1:p.Leu1243=
ENST00000682585.1:c.3730T>C	ENSP00000506885.1:p.Leu1244=
ENST00000682595.1:n.4314T>C
ENST00000682607.1:c.2148T>C
ENST00000682612.1:c.582T>C
ENST00000682779.1:c.3721T>C	ENSP00000507947.1:p.Leu1241=
ENST00000682845.1:n.2832T>C
ENST00000682885.1:c.3685T>C	ENSP00000508036.1:p.Leu1229=
ENST00000682933.1:n.3804T>C
ENST00000683002.1:c.582T>C
ENST00000683072.1:n.4314T>C
ENST00000683080.1:n.1349T>C
ENST00000683125.1:c.3838T>C	ENSP00000507939.1:p.Leu1280=
ENST00000683213.1:c.3733T>C	ENSP00000507751.1:p.Leu1245=
ENST00000683220.1:c.3760T>C	ENSP00000507151.1:p.Leu1254=
ENST00000683329.1:n.4533T>C
ENST00000683346.1:c.*3605T>C	ENSP00000507458.1:n.*3605T>C
ENST00000683409.1:n.2337T>C
ENST00000683459.1:n.4317T>C
ENST00000683528.1:c.658T>C
ENST00000683590.1:c.3478T>C	ENSP00000506820.1:p.Leu1160=
ENST00000683623.1:c.3637T>C	ENSP00000507702.1:p.Leu1213=
ENST00000683645.1:n.4281T>C
ENST00000683796.1:c.*3602T>C	ENSP00000508221.1:n.*3602T>C
ENST00000683802.1:n.6655T>C
ENST00000683833.1:c.3721T>C	ENSP00000506852.1:p.Leu1241=
ENST00000683994.1:c.3730T>C	ENSP00000507181.1:p.Leu1244=
ENST00000684290.1:c.*1266T>C	ENSP00000507243.1:n.*1266T>C
ENST00000684306.1:c.*3643T>C	ENSP00000508384.1:n.*3643T>C
ENST00000684341.1:n.3750T>C
ENST00000684383.1:c.*3368T>C	ENSP00000506863.1:n.*3368T>C
ENST00000684418.1:n.4911T>C
ENST00000684433.1:n.114T>C
ENST00000684454.1:n.3080T>C
ENST00000684619.1:c.*3602T>C	ENSP00000508088.1:n.*3602T>C
ENST00000684743.1:n.6475T>C
ENST00000260665.12:c.3730T>C MANE Select	ENSP00000260665.7:p.Leu1244=
ENST00000260665.11:c.3730T>C	ENSP00000260665.7:p.Leu1244=
ENST00000463456.5:n.2773T>C
ENST00000472420.5:n.127T>C
ENST00000483489.1:n.204T>C
NM_133259.3:c.3730T>C	NP_573566.2:p.Leu1244=
XM_006711915.2:c.3652T>C	XP_006711978.1:p.Leu1218=
XM_011532473.1:c.3730T>C	XP_011530775.1:p.Leu1244=
XM_011532474.1:c.3730T>C	XP_011530776.1:p.Leu1244=
XM_017003117.1:c.3652T>C	XP_016858606.1:p.Leu1218=
XR_002958896.1:n.3772T>C
NM_133259.4:c.3730T>C MANE Select	NP_573566.2:p.Leu1244=