Canonical Allele Identifier: CA1638106

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1143810
• ClinVar RCV Id: RCV001482099
• dbSNP Id: rs762916998
• ExAC: 2:44132910 G / C
• gnomAD v2: 2-44132910-G-C
• gnomAD v3: 2-43905771-G-C
• gnomAD v4: 2-43905771-G-C
• MyVariant Identifiers: chr2:g.44132910G>C (hg19) ; chr2:g.43905771G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905771G>C , CM000664.2:g.43905771G>C	GRCh38
NC_000002.11:g.44132910G>C , CM000664.1:g.44132910G>C	GRCh37
NC_000002.10:g.43986414G>C	NCBI36
NG_008247.1:g.95235C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.364C>G
ENST00000681993.1:n.837C>G
ENST00000682295.1:c.440C>G	ENSP00000507499.1:n.440C>G
ENST00000682303.1:c.*3071C>G	ENSP00000508325.1:n.*3071C>G
ENST00000682308.1:c.3285C>G	ENSP00000507056.1:p.Thr1095=
ENST00000682480.1:c.3303C>G	ENSP00000508344.1:p.Thr1101=
ENST00000682546.1:c.3282C>G	ENSP00000508188.1:p.Thr1094=
ENST00000682585.1:c.3285C>G	ENSP00000506885.1:p.Thr1095=
ENST00000682595.1:n.3869C>G
ENST00000682607.1:c.1703C>G
ENST00000682612.1:c.137C>G
ENST00000682779.1:c.3276C>G	ENSP00000507947.1:p.Thr1092=
ENST00000682845.1:n.2387C>G
ENST00000682885.1:c.3240C>G	ENSP00000508036.1:p.Thr1080=
ENST00000682933.1:n.3359C>G
ENST00000683002.1:c.137C>G
ENST00000683072.1:n.3869C>G
ENST00000683080.1:n.904C>G
ENST00000683125.1:c.3393C>G	ENSP00000507939.1:p.Thr1131=
ENST00000683213.1:c.3288C>G	ENSP00000507751.1:p.Thr1096=
ENST00000683220.1:c.3315C>G	ENSP00000507151.1:p.Thr1105=
ENST00000683329.1:n.4088C>G
ENST00000683346.1:c.*3160C>G	ENSP00000507458.1:n.*3160C>G
ENST00000683409.1:n.1892C>G
ENST00000683459.1:n.3872C>G
ENST00000683528.1:c.137C>G
ENST00000683590.1:c.3033C>G	ENSP00000506820.1:p.Thr1011=
ENST00000683623.1:c.3192C>G	ENSP00000507702.1:p.Thr1064=
ENST00000683645.1:n.3836C>G
ENST00000683796.1:c.*3157C>G	ENSP00000508221.1:n.*3157C>G
ENST00000683802.1:n.6210C>G
ENST00000683833.1:c.3276C>G	ENSP00000506852.1:p.Thr1092=
ENST00000683994.1:c.3285C>G	ENSP00000507181.1:p.Thr1095=
ENST00000684290.1:c.*821C>G	ENSP00000507243.1:n.*821C>G
ENST00000684306.1:c.*3198C>G	ENSP00000508384.1:n.*3198C>G
ENST00000684341.1:n.3305C>G
ENST00000684383.1:c.*2923C>G	ENSP00000506863.1:n.*2923C>G
ENST00000684418.1:n.4466C>G
ENST00000684454.1:n.2635C>G
ENST00000684619.1:c.*3157C>G	ENSP00000508088.1:n.*3157C>G
ENST00000684743.1:n.4316C>G
ENST00000260665.12:c.3285C>G MANE Select	ENSP00000260665.7:p.Thr1095=
ENST00000260665.11:c.3285C>G	ENSP00000260665.7:p.Thr1095=
NM_133259.3:c.3285C>G	NP_573566.2:p.Thr1095=
XM_006711915.2:c.3207C>G	XP_006711978.1:p.Thr1069=
XM_011532473.1:c.3285C>G	XP_011530775.1:p.Thr1095=
XM_011532474.1:c.3285C>G	XP_011530776.1:p.Thr1095=
XM_017003117.1:c.3207C>G	XP_016858606.1:p.Thr1069=
XR_002958896.1:n.3327C>G
NM_133259.4:c.3285C>G MANE Select	NP_573566.2:p.Thr1095=