Canonical Allele Identifier: CA425909699

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1141504
• ClinVar RCV Id: RCV001478952
• dbSNP Id: rs1394040536
• gnomAD v4: 2-43943743-C-T
• MyVariant Identifiers: chr2:g.44170882C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943743C>T , CM000664.2:g.43943743C>T	GRCh38
NC_000002.11:g.44170882C>T , CM000664.1:g.44170882C>T	GRCh37
NC_000002.10:g.44024386C>T	NCBI36
NG_008247.1:g.57263G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2448G>A	ENSP00000386562.2:p.Gly816=
ENST00000447246.2:c.2448G>A	ENSP00000403637.2:p.Gly816=
ENST00000681961.1:n.2468G>A
ENST00000682104.1:c.2322G>A	ENSP00000507716.1:p.Gly774=
ENST00000682303.1:c.*2234G>A	ENSP00000508325.1:n.*2234G>A
ENST00000682308.1:c.2448G>A	ENSP00000507056.1:p.Gly816=
ENST00000682480.1:c.2448G>A	ENSP00000508344.1:p.Gly816=
ENST00000682546.1:c.2445G>A	ENSP00000508188.1:p.Gly815=
ENST00000682585.1:c.2448G>A	ENSP00000506885.1:p.Gly816=
ENST00000682595.1:n.3030G>A
ENST00000682607.1:c.866G>A
ENST00000682779.1:c.2439G>A	ENSP00000507947.1:p.Gly813=
ENST00000682845.1:n.1550G>A
ENST00000682885.1:c.2403G>A	ENSP00000508036.1:p.Gly801=
ENST00000682933.1:n.2522G>A
ENST00000683072.1:n.3030G>A
ENST00000683125.1:c.2448G>A	ENSP00000507939.1:p.Gly816=
ENST00000683213.1:c.2451G>A	ENSP00000507751.1:p.Gly817=
ENST00000683220.1:c.2478G>A	ENSP00000507151.1:p.Gly826=
ENST00000683329.1:n.3251G>A
ENST00000683346.1:c.*2323G>A	ENSP00000507458.1:n.*2323G>A
ENST00000683459.1:n.3035G>A
ENST00000683590.1:c.2448G>A	ENSP00000506820.1:p.Gly816=
ENST00000683623.1:c.2355G>A	ENSP00000507702.1:p.Gly785=
ENST00000683645.1:n.2999G>A
ENST00000683694.1:n.1199G>A
ENST00000683796.1:c.*2320G>A	ENSP00000508221.1:n.*2320G>A
ENST00000683802.1:n.5373G>A
ENST00000683833.1:c.2439G>A	ENSP00000506852.1:p.Gly813=
ENST00000683989.1:c.2448G>A	ENSP00000507510.1:p.Gly816=
ENST00000683994.1:c.2448G>A	ENSP00000507181.1:p.Gly816=
ENST00000684290.1:c.*142G>A	ENSP00000507243.1:n.*142G>A
ENST00000684306.1:c.*2361G>A	ENSP00000508384.1:n.*2361G>A
ENST00000684341.1:n.2468G>A
ENST00000684383.1:c.*2086G>A	ENSP00000506863.1:n.*2086G>A
ENST00000684397.1:c.152G>A
ENST00000684619.1:c.*2320G>A	ENSP00000508088.1:n.*2320G>A
ENST00000684743.1:n.3479G>A
ENST00000260665.12:c.2448G>A MANE Select	ENSP00000260665.7:p.Gly816=
ENST00000260665.11:c.2448G>A	ENSP00000260665.7:p.Gly816=
NM_133259.3:c.2448G>A	NP_573566.2:p.Gly816=
XM_006711915.2:c.2370G>A	XP_006711978.1:p.Gly790=
XM_006711916.2:c.2448G>A	XP_006711979.1:p.Gly816=
XM_011532473.1:c.2448G>A	XP_011530775.1:p.Gly816=
XM_011532474.1:c.2448G>A	XP_011530776.1:p.Gly816=
XM_006711916.3:c.2448G>A	XP_006711979.1:p.Gly816=
XM_017003117.1:c.2370G>A	XP_016858606.1:p.Gly790=
XR_002958896.1:n.2490G>A
NM_133259.4:c.2448G>A MANE Select	NP_573566.2:p.Gly816=