Canonical Allele Identifier: CA346667938

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 633291
• ClinVar RCV Id: RCV000781512
• dbSNP Id: rs1558936154
• gnomAD v4: 2-43918043-G-A
• COSMIC: COSM4698948
• MyVariant Identifiers: chr2:g.44145182G>A (hg19) ; chr2:g.43918043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918043G>A , CM000664.2:g.43918043G>A	GRCh38
NC_000002.11:g.44145182G>A , CM000664.1:g.44145182G>A	GRCh37
NC_000002.10:g.43998686G>A	NCBI36
NG_008247.1:g.82963C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.682C>T
ENST00000682295.1:c.303+213C>T	ENSP00000507499.1:n.303+213C>T
ENST00000682303.1:c.*2916C>T	ENSP00000508325.1:n.*2916C>T
ENST00000682308.1:c.3130C>T	ENSP00000507056.1:p.Arg1044Ter
ENST00000682480.1:c.3148C>T	ENSP00000508344.1:p.Arg1050Ter
ENST00000682546.1:c.3127C>T	ENSP00000508188.1:p.Arg1043Ter
ENST00000682585.1:c.3130C>T	ENSP00000506885.1:p.Arg1044Ter
ENST00000682595.1:n.3714C>T
ENST00000682607.1:c.1548C>T
ENST00000682779.1:c.3121C>T	ENSP00000507947.1:p.Arg1041Ter
ENST00000682845.1:n.2232C>T
ENST00000682885.1:c.3085C>T	ENSP00000508036.1:p.Arg1029Ter
ENST00000682933.1:n.3204C>T
ENST00000683072.1:n.3714C>T
ENST00000683080.1:n.749C>T
ENST00000683125.1:c.3238C>T	ENSP00000507939.1:p.Arg1080Ter
ENST00000683213.1:c.3133C>T	ENSP00000507751.1:p.Arg1045Ter
ENST00000683220.1:c.3160C>T	ENSP00000507151.1:p.Arg1054Ter
ENST00000683329.1:n.3933C>T
ENST00000683346.1:c.*3005C>T	ENSP00000507458.1:n.*3005C>T
ENST00000683409.1:n.1737C>T
ENST00000683459.1:n.3717C>T
ENST00000683590.1:c.2897-5485C>T	ENSP00000506820.1:n.2897-5485C>T
ENST00000683623.1:c.3037C>T	ENSP00000507702.1:p.Arg1013Ter
ENST00000683645.1:n.3681C>T
ENST00000683796.1:c.*3002C>T	ENSP00000508221.1:n.*3002C>T
ENST00000683802.1:n.6055C>T
ENST00000683833.1:c.3121C>T	ENSP00000506852.1:p.Arg1041Ter
ENST00000683994.1:c.3130C>T	ENSP00000507181.1:p.Arg1044Ter
ENST00000684290.1:c.*666C>T	ENSP00000507243.1:n.*666C>T
ENST00000684306.1:c.*3043C>T	ENSP00000508384.1:n.*3043C>T
ENST00000684341.1:n.3150C>T
ENST00000684383.1:c.*2768C>T	ENSP00000506863.1:n.*2768C>T
ENST00000684619.1:c.*3002C>T	ENSP00000508088.1:n.*3002C>T
ENST00000684705.1:n.251C>T
ENST00000684743.1:n.4161C>T
ENST00000260665.12:c.3130C>T MANE Select	ENSP00000260665.7:p.Arg1044Ter
ENST00000260665.11:c.3130C>T	ENSP00000260665.7:p.Arg1044Ter
NM_133259.3:c.3130C>T	NP_573566.2:p.Arg1044Ter
XM_006711915.2:c.3052C>T	XP_006711978.1:p.Arg1018Ter
XM_006711916.2:c.3130C>T	XP_006711979.1:p.Arg1044Ter
XM_011532473.1:c.3130C>T	XP_011530775.1:p.Arg1044Ter
XM_011532474.1:c.3130C>T	XP_011530776.1:p.Arg1044Ter
XM_006711916.3:c.3130C>T	XP_006711979.1:p.Arg1044Ter
XM_017003117.1:c.3052C>T	XP_016858606.1:p.Arg1018Ter
XR_002958896.1:n.3172C>T
NM_133259.4:c.3130C>T MANE Select	NP_573566.2:p.Arg1044Ter