Canonical Allele Identifier: CA346676742

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1405427723
• gnomAD v2: 2-44126461-G-A
• gnomAD v3: 2-43899322-G-A
• gnomAD v4: 2-43899322-G-A
• COSMIC: COSM5481751
• MyVariant Identifiers: chr2:g.44126461G>A (hg19) ; chr2:g.43899322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899322G>A , CM000664.2:g.43899322G>A	GRCh38
NC_000002.11:g.44126461G>A , CM000664.1:g.44126461G>A	GRCh37
NC_000002.10:g.43979965G>A	NCBI36
NG_008247.1:g.101684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.153C>T
ENST00000472420.6:n.801C>T
ENST00000483489.2:n.153C>T
ENST00000681993.1:n.1274C>T
ENST00000682303.1:c.*3508C>T	ENSP00000508325.1:n.*3508C>T
ENST00000682308.1:c.3722C>T	ENSP00000507056.1:p.Ala1241Val
ENST00000682434.1:n.1273C>T
ENST00000682480.1:c.3740C>T	ENSP00000508344.1:p.Ala1247Val
ENST00000682546.1:c.3719C>T	ENSP00000508188.1:p.Ala1240Val
ENST00000682585.1:c.3722C>T	ENSP00000506885.1:p.Ala1241Val
ENST00000682595.1:n.4306C>T
ENST00000682607.1:c.2140C>T
ENST00000682612.1:c.574C>T
ENST00000682779.1:c.3713C>T	ENSP00000507947.1:p.Ala1238Val
ENST00000682845.1:n.2824C>T
ENST00000682885.1:c.3677C>T	ENSP00000508036.1:p.Ala1226Val
ENST00000682933.1:n.3796C>T
ENST00000683002.1:c.574C>T
ENST00000683072.1:n.4306C>T
ENST00000683080.1:n.1341C>T
ENST00000683125.1:c.3830C>T	ENSP00000507939.1:p.Ala1277Val
ENST00000683213.1:c.3725C>T	ENSP00000507751.1:p.Ala1242Val
ENST00000683220.1:c.3752C>T	ENSP00000507151.1:p.Ala1251Val
ENST00000683329.1:n.4525C>T
ENST00000683346.1:c.*3597C>T	ENSP00000507458.1:n.*3597C>T
ENST00000683409.1:n.2329C>T
ENST00000683459.1:n.4309C>T
ENST00000683528.1:c.650C>T
ENST00000683590.1:c.3470C>T	ENSP00000506820.1:p.Ala1157Val
ENST00000683623.1:c.3629C>T	ENSP00000507702.1:p.Ala1210Val
ENST00000683645.1:n.4273C>T
ENST00000683796.1:c.*3594C>T	ENSP00000508221.1:n.*3594C>T
ENST00000683802.1:n.6647C>T
ENST00000683833.1:c.3713C>T	ENSP00000506852.1:p.Ala1238Val
ENST00000683994.1:c.3722C>T	ENSP00000507181.1:p.Ala1241Val
ENST00000684290.1:c.*1258C>T	ENSP00000507243.1:n.*1258C>T
ENST00000684306.1:c.*3635C>T	ENSP00000508384.1:n.*3635C>T
ENST00000684341.1:n.3742C>T
ENST00000684383.1:c.*3360C>T	ENSP00000506863.1:n.*3360C>T
ENST00000684418.1:n.4903C>T
ENST00000684433.1:n.106C>T
ENST00000684454.1:n.3072C>T
ENST00000684619.1:c.*3594C>T	ENSP00000508088.1:n.*3594C>T
ENST00000684743.1:n.6467C>T
ENST00000260665.12:c.3722C>T MANE Select	ENSP00000260665.7:p.Ala1241Val
ENST00000260665.11:c.3722C>T	ENSP00000260665.7:p.Ala1241Val
ENST00000463456.5:n.2765C>T
ENST00000472420.5:n.119C>T
ENST00000483489.1:n.196C>T
NM_133259.3:c.3722C>T	NP_573566.2:p.Ala1241Val
XM_006711915.2:c.3644C>T	XP_006711978.1:p.Ala1215Val
XM_011532473.1:c.3722C>T	XP_011530775.1:p.Ala1241Val
XM_011532474.1:c.3722C>T	XP_011530776.1:p.Ala1241Val
XM_017003117.1:c.3644C>T	XP_016858606.1:p.Ala1215Val
XR_002958896.1:n.3764C>T
NM_133259.4:c.3722C>T MANE Select	NP_573566.2:p.Ala1241Val