Canonical Allele Identifier: CA346674960

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894628-G-A
• MyVariant Identifiers: chr2:g.44121767G>A (hg19) ; chr2:g.43894628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894628G>A , CM000664.2:g.43894628G>A	GRCh38
NC_000002.11:g.44121767G>A , CM000664.1:g.44121767G>A	GRCh37
NC_000002.10:g.43975271G>A	NCBI36
NG_008247.1:g.106378C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.532C>T
ENST00000681993.1:n.1454C>T
ENST00000682154.1:n.1336C>T
ENST00000682303.1:c.*3613C>T	ENSP00000508325.1:n.*3613C>T
ENST00000682308.1:c.3827C>T	ENSP00000507056.1:p.Ala1276Val
ENST00000682434.1:n.3457C>T
ENST00000682480.1:c.3920C>T	ENSP00000508344.1:p.Ala1307Val
ENST00000682546.1:c.3899C>T	ENSP00000508188.1:p.Ala1300Val
ENST00000682585.1:c.*30C>T	ENSP00000506885.1:n.*30C>T
ENST00000682607.1:c.2645C>T
ENST00000682612.1:c.752+2006C>T
ENST00000682696.1:c.2C>T	ENSP00000508411.1:p.Ala1Val
ENST00000682779.1:c.3893C>T	ENSP00000507947.1:p.Ala1298Val
ENST00000682885.1:c.3857C>T	ENSP00000508036.1:p.Ala1286Val
ENST00000682933.1:n.4102C>T
ENST00000683002.1:c.754C>T
ENST00000683072.1:n.4486C>T
ENST00000683080.1:n.1521C>T
ENST00000683096.1:n.2343C>T
ENST00000683125.1:c.4010C>T	ENSP00000507939.1:p.Ala1337Val
ENST00000683213.1:c.3905C>T	ENSP00000507751.1:p.Ala1302Val
ENST00000683220.1:c.3932C>T	ENSP00000507151.1:p.Ala1311Val
ENST00000683329.1:n.4705C>T
ENST00000683346.1:c.*3777C>T	ENSP00000507458.1:n.*3777C>T
ENST00000683409.1:n.2434C>T
ENST00000683459.1:n.4489C>T
ENST00000683590.1:c.3575C>T	ENSP00000506820.1:p.Ala1192Val
ENST00000683623.1:c.3809C>T	ENSP00000507702.1:p.Ala1270Val
ENST00000683796.1:c.*3699C>T	ENSP00000508221.1:n.*3699C>T
ENST00000683833.1:c.3818C>T	ENSP00000506852.1:p.Ala1273Val
ENST00000683994.1:c.*15C>T	ENSP00000507181.1:n.*15C>T
ENST00000684290.1:c.*1363C>T	ENSP00000507243.1:n.*1363C>T
ENST00000684306.1:c.*3815C>T	ENSP00000508384.1:n.*3815C>T
ENST00000684383.1:c.*3540C>T	ENSP00000506863.1:n.*3540C>T
ENST00000684418.1:n.5083C>T
ENST00000684433.1:n.286C>T
ENST00000684454.1:n.7766C>T
ENST00000684619.1:c.*3774C>T	ENSP00000508088.1:n.*3774C>T
ENST00000684743.1:n.6647C>T
ENST00000260665.12:c.3902C>T MANE Select	ENSP00000260665.7:p.Ala1301Val
ENST00000260665.11:c.3902C>T	ENSP00000260665.7:p.Ala1301Val
ENST00000419884.5:c.143C>T	ENSP00000414207.1:p.Ala48Val
ENST00000463456.5:n.2945C>T
NM_133259.3:c.3902C>T	NP_573566.2:p.Ala1301Val
XM_006711915.2:c.3824C>T	XP_006711978.1:p.Ala1275Val
XM_011532473.1:c.3827C>T	XP_011530775.1:p.Ala1276Val
XM_011532474.1:c.3902C>T	XP_011530776.1:p.Ala1301Val
XM_017003117.1:c.3749C>T	XP_016858606.1:p.Ala1250Val
XR_002958896.1:n.3944C>T
NM_133259.4:c.3902C>T MANE Select	NP_573566.2:p.Ala1301Val