Canonical Allele Identifier: CA425908535

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2876232
• ClinVar RCV Id: RCV003710135
• MyVariant Identifiers: chr2:g.44145246G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918107G>T , CM000664.2:g.43918107G>T	GRCh38
NC_000002.11:g.44145246G>T , CM000664.1:g.44145246G>T	GRCh37
NC_000002.10:g.43998750G>T	NCBI36
NG_008247.1:g.82899C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.618C>A
ENST00000682295.1:c.303+149C>A	ENSP00000507499.1:n.303+149C>A
ENST00000682303.1:c.*2852C>A	ENSP00000508325.1:n.*2852C>A
ENST00000682308.1:c.3066C>A	ENSP00000507056.1:p.Ser1022=
ENST00000682480.1:c.3084C>A	ENSP00000508344.1:p.Ser1028=
ENST00000682546.1:c.3063C>A	ENSP00000508188.1:p.Ser1021=
ENST00000682585.1:c.3066C>A	ENSP00000506885.1:p.Ser1022=
ENST00000682595.1:n.3650C>A
ENST00000682607.1:c.1484C>A
ENST00000682779.1:c.3057C>A	ENSP00000507947.1:p.Ser1019=
ENST00000682845.1:n.2168C>A
ENST00000682885.1:c.3021C>A	ENSP00000508036.1:p.Ser1007=
ENST00000682933.1:n.3140C>A
ENST00000683072.1:n.3650C>A
ENST00000683080.1:n.685C>A
ENST00000683125.1:c.3174C>A	ENSP00000507939.1:p.Ser1058=
ENST00000683213.1:c.3069C>A	ENSP00000507751.1:p.Ser1023=
ENST00000683220.1:c.3096C>A	ENSP00000507151.1:p.Ser1032=
ENST00000683329.1:n.3869C>A
ENST00000683346.1:c.*2941C>A	ENSP00000507458.1:n.*2941C>A
ENST00000683409.1:n.1673C>A
ENST00000683459.1:n.3653C>A
ENST00000683590.1:c.2897-5549C>A	ENSP00000506820.1:n.2897-5549C>A
ENST00000683623.1:c.2973C>A	ENSP00000507702.1:p.Ser991=
ENST00000683645.1:n.3617C>A
ENST00000683796.1:c.*2938C>A	ENSP00000508221.1:n.*2938C>A
ENST00000683802.1:n.5991C>A
ENST00000683833.1:c.3057C>A	ENSP00000506852.1:p.Ser1019=
ENST00000683994.1:c.3066C>A	ENSP00000507181.1:p.Ser1022=
ENST00000684290.1:c.*602C>A	ENSP00000507243.1:n.*602C>A
ENST00000684306.1:c.*2979C>A	ENSP00000508384.1:n.*2979C>A
ENST00000684341.1:n.3086C>A
ENST00000684383.1:c.*2704C>A	ENSP00000506863.1:n.*2704C>A
ENST00000684619.1:c.*2938C>A	ENSP00000508088.1:n.*2938C>A
ENST00000684705.1:n.187C>A
ENST00000684743.1:n.4097C>A
ENST00000260665.12:c.3066C>A MANE Select	ENSP00000260665.7:p.Ser1022=
ENST00000260665.11:c.3066C>A	ENSP00000260665.7:p.Ser1022=
NM_133259.3:c.3066C>A	NP_573566.2:p.Ser1022=
XM_006711915.2:c.2988C>A	XP_006711978.1:p.Ser996=
XM_006711916.2:c.3066C>A	XP_006711979.1:p.Ser1022=
XM_011532473.1:c.3066C>A	XP_011530775.1:p.Ser1022=
XM_011532474.1:c.3066C>A	XP_011530776.1:p.Ser1022=
XM_006711916.3:c.3066C>A	XP_006711979.1:p.Ser1022=
XM_017003117.1:c.2988C>A	XP_016858606.1:p.Ser996=
XR_002958896.1:n.3108C>A
NM_133259.4:c.3066C>A MANE Select	NP_573566.2:p.Ser1022=