Canonical Allele Identifier: CA425908466

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1914911
• ClinVar RCV Id: RCV002612862
• dbSNP Id: rs1336865167
• gnomAD v4: 2-43918044-G-A
• COSMIC: COSM1021072
• MyVariant Identifiers: chr2:g.44145183G>A (hg19) ; chr2:g.43918044G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918044G>A , CM000664.2:g.43918044G>A	GRCh38
NC_000002.11:g.44145183G>A , CM000664.1:g.44145183G>A	GRCh37
NC_000002.10:g.43998687G>A	NCBI36
NG_008247.1:g.82962C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.681C>T
ENST00000682295.1:c.303+212C>T	ENSP00000507499.1:n.303+212C>T
ENST00000682303.1:c.*2915C>T	ENSP00000508325.1:n.*2915C>T
ENST00000682308.1:c.3129C>T	ENSP00000507056.1:p.Cys1043=
ENST00000682480.1:c.3147C>T	ENSP00000508344.1:p.Cys1049=
ENST00000682546.1:c.3126C>T	ENSP00000508188.1:p.Cys1042=
ENST00000682585.1:c.3129C>T	ENSP00000506885.1:p.Cys1043=
ENST00000682595.1:n.3713C>T
ENST00000682607.1:c.1547C>T
ENST00000682779.1:c.3120C>T	ENSP00000507947.1:p.Cys1040=
ENST00000682845.1:n.2231C>T
ENST00000682885.1:c.3084C>T	ENSP00000508036.1:p.Cys1028=
ENST00000682933.1:n.3203C>T
ENST00000683072.1:n.3713C>T
ENST00000683080.1:n.748C>T
ENST00000683125.1:c.3237C>T	ENSP00000507939.1:p.Cys1079=
ENST00000683213.1:c.3132C>T	ENSP00000507751.1:p.Cys1044=
ENST00000683220.1:c.3159C>T	ENSP00000507151.1:p.Cys1053=
ENST00000683329.1:n.3932C>T
ENST00000683346.1:c.*3004C>T	ENSP00000507458.1:n.*3004C>T
ENST00000683409.1:n.1736C>T
ENST00000683459.1:n.3716C>T
ENST00000683590.1:c.2897-5486C>T	ENSP00000506820.1:n.2897-5486C>T
ENST00000683623.1:c.3036C>T	ENSP00000507702.1:p.Cys1012=
ENST00000683645.1:n.3680C>T
ENST00000683796.1:c.*3001C>T	ENSP00000508221.1:n.*3001C>T
ENST00000683802.1:n.6054C>T
ENST00000683833.1:c.3120C>T	ENSP00000506852.1:p.Cys1040=
ENST00000683994.1:c.3129C>T	ENSP00000507181.1:p.Cys1043=
ENST00000684290.1:c.*665C>T	ENSP00000507243.1:n.*665C>T
ENST00000684306.1:c.*3042C>T	ENSP00000508384.1:n.*3042C>T
ENST00000684341.1:n.3149C>T
ENST00000684383.1:c.*2767C>T	ENSP00000506863.1:n.*2767C>T
ENST00000684619.1:c.*3001C>T	ENSP00000508088.1:n.*3001C>T
ENST00000684705.1:n.250C>T
ENST00000684743.1:n.4160C>T
ENST00000260665.12:c.3129C>T MANE Select	ENSP00000260665.7:p.Cys1043=
ENST00000260665.11:c.3129C>T	ENSP00000260665.7:p.Cys1043=
NM_133259.3:c.3129C>T	NP_573566.2:p.Cys1043=
XM_006711915.2:c.3051C>T	XP_006711978.1:p.Cys1017=
XM_006711916.2:c.3129C>T	XP_006711979.1:p.Cys1043=
XM_011532473.1:c.3129C>T	XP_011530775.1:p.Cys1043=
XM_011532474.1:c.3129C>T	XP_011530776.1:p.Cys1043=
XM_006711916.3:c.3129C>T	XP_006711979.1:p.Cys1043=
XM_017003117.1:c.3051C>T	XP_016858606.1:p.Cys1017=
XR_002958896.1:n.3171C>T
NM_133259.4:c.3129C>T MANE Select	NP_573566.2:p.Cys1043=