Canonical Allele Identifier: CA425908460

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1201740628
• gnomAD v2: 2-44145177-C-T
• gnomAD v3: 2-43918038-C-T
• gnomAD v4: 2-43918038-C-T
• MyVariant Identifiers: chr2:g.44145177C>T (hg19) ; chr2:g.43918038C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918038C>T , CM000664.2:g.43918038C>T	GRCh38
NC_000002.11:g.44145177C>T , CM000664.1:g.44145177C>T	GRCh37
NC_000002.10:g.43998681C>T	NCBI36
NG_008247.1:g.82968G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.687G>A
ENST00000682295.1:c.303+218G>A	ENSP00000507499.1:n.303+218G>A
ENST00000682303.1:c.*2921G>A	ENSP00000508325.1:n.*2921G>A
ENST00000682308.1:c.3135G>A	ENSP00000507056.1:p.Leu1045=
ENST00000682480.1:c.3153G>A	ENSP00000508344.1:p.Leu1051=
ENST00000682546.1:c.3132G>A	ENSP00000508188.1:p.Leu1044=
ENST00000682585.1:c.3135G>A	ENSP00000506885.1:p.Leu1045=
ENST00000682595.1:n.3719G>A
ENST00000682607.1:c.1553G>A
ENST00000682779.1:c.3126G>A	ENSP00000507947.1:p.Leu1042=
ENST00000682845.1:n.2237G>A
ENST00000682885.1:c.3090G>A	ENSP00000508036.1:p.Leu1030=
ENST00000682933.1:n.3209G>A
ENST00000683072.1:n.3719G>A
ENST00000683080.1:n.754G>A
ENST00000683125.1:c.3243G>A	ENSP00000507939.1:p.Leu1081=
ENST00000683213.1:c.3138G>A	ENSP00000507751.1:p.Leu1046=
ENST00000683220.1:c.3165G>A	ENSP00000507151.1:p.Leu1055=
ENST00000683329.1:n.3938G>A
ENST00000683346.1:c.*3010G>A	ENSP00000507458.1:n.*3010G>A
ENST00000683409.1:n.1742G>A
ENST00000683459.1:n.3722G>A
ENST00000683590.1:c.2897-5480G>A	ENSP00000506820.1:n.2897-5480G>A
ENST00000683623.1:c.3042G>A	ENSP00000507702.1:p.Leu1014=
ENST00000683645.1:n.3686G>A
ENST00000683796.1:c.*3007G>A	ENSP00000508221.1:n.*3007G>A
ENST00000683802.1:n.6060G>A
ENST00000683833.1:c.3126G>A	ENSP00000506852.1:p.Leu1042=
ENST00000683994.1:c.3135G>A	ENSP00000507181.1:p.Leu1045=
ENST00000684290.1:c.*671G>A	ENSP00000507243.1:n.*671G>A
ENST00000684306.1:c.*3048G>A	ENSP00000508384.1:n.*3048G>A
ENST00000684341.1:n.3155G>A
ENST00000684383.1:c.*2773G>A	ENSP00000506863.1:n.*2773G>A
ENST00000684619.1:c.*3007G>A	ENSP00000508088.1:n.*3007G>A
ENST00000684705.1:n.256G>A
ENST00000684743.1:n.4166G>A
ENST00000260665.12:c.3135G>A MANE Select	ENSP00000260665.7:p.Leu1045=
ENST00000260665.11:c.3135G>A	ENSP00000260665.7:p.Leu1045=
NM_133259.3:c.3135G>A	NP_573566.2:p.Leu1045=
XM_006711915.2:c.3057G>A	XP_006711978.1:p.Leu1019=
XM_006711916.2:c.3135G>A	XP_006711979.1:p.Leu1045=
XM_011532473.1:c.3135G>A	XP_011530775.1:p.Leu1045=
XM_011532474.1:c.3135G>A	XP_011530776.1:p.Leu1045=
XM_006711916.3:c.3135G>A	XP_006711979.1:p.Leu1045=
XM_017003117.1:c.3057G>A	XP_016858606.1:p.Leu1019=
XR_002958896.1:n.3177G>A
NM_133259.4:c.3135G>A MANE Select	NP_573566.2:p.Leu1045=