Canonical Allele Identifier: CA346676348

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899229-G-T
• MyVariant Identifiers: chr2:g.44126368G>T (hg19) ; chr2:g.43899229G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899229G>T , CM000664.2:g.43899229G>T	GRCh38
NC_000002.11:g.44126368G>T , CM000664.1:g.44126368G>T	GRCh37
NC_000002.10:g.43979872G>T	NCBI36
NG_008247.1:g.101777C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.246C>A
ENST00000472420.6:n.894C>A
ENST00000483489.2:n.246C>A
ENST00000681993.1:n.1367C>A
ENST00000682303.1:c.*3601C>A	ENSP00000508325.1:n.*3601C>A
ENST00000682308.1:c.3815C>A	ENSP00000507056.1:p.Ala1272Asp
ENST00000682434.1:n.1366C>A
ENST00000682480.1:c.3833C>A	ENSP00000508344.1:p.Ala1278Asp
ENST00000682546.1:c.3812C>A	ENSP00000508188.1:p.Ala1271Asp
ENST00000682585.1:c.3815C>A	ENSP00000506885.1:p.Ala1272Asp
ENST00000682595.1:n.4399C>A
ENST00000682607.1:c.2233C>A
ENST00000682612.1:c.667C>A
ENST00000682779.1:c.3806C>A	ENSP00000507947.1:p.Ala1269Asp
ENST00000682885.1:c.3770C>A	ENSP00000508036.1:p.Ala1257Asp
ENST00000682933.1:n.3889C>A
ENST00000683002.1:c.667C>A
ENST00000683072.1:n.4399C>A
ENST00000683080.1:n.1434C>A
ENST00000683125.1:c.3923C>A	ENSP00000507939.1:p.Ala1308Asp
ENST00000683213.1:c.3818C>A	ENSP00000507751.1:p.Ala1273Asp
ENST00000683220.1:c.3845C>A	ENSP00000507151.1:p.Ala1282Asp
ENST00000683329.1:n.4618C>A
ENST00000683346.1:c.*3690C>A	ENSP00000507458.1:n.*3690C>A
ENST00000683409.1:n.2422C>A
ENST00000683459.1:n.4402C>A
ENST00000683528.1:c.743C>A
ENST00000683590.1:c.3563C>A	ENSP00000506820.1:p.Ala1188Asp
ENST00000683623.1:c.3722C>A	ENSP00000507702.1:p.Ala1241Asp
ENST00000683645.1:n.4366C>A
ENST00000683796.1:c.*3687C>A	ENSP00000508221.1:n.*3687C>A
ENST00000683833.1:c.3806C>A	ENSP00000506852.1:p.Ala1269Asp
ENST00000683994.1:c.3815C>A	ENSP00000507181.1:p.Ala1272Asp
ENST00000684290.1:c.*1351C>A	ENSP00000507243.1:n.*1351C>A
ENST00000684306.1:c.*3728C>A	ENSP00000508384.1:n.*3728C>A
ENST00000684341.1:n.3835C>A
ENST00000684383.1:c.*3453C>A	ENSP00000506863.1:n.*3453C>A
ENST00000684418.1:n.4996C>A
ENST00000684433.1:n.199C>A
ENST00000684454.1:n.3165C>A
ENST00000684619.1:c.*3687C>A	ENSP00000508088.1:n.*3687C>A
ENST00000684743.1:n.6560C>A
ENST00000260665.12:c.3815C>A MANE Select	ENSP00000260665.7:p.Ala1272Asp
ENST00000260665.11:c.3815C>A	ENSP00000260665.7:p.Ala1272Asp
ENST00000419884.5:c.56C>A	ENSP00000414207.1:p.Ala19Asp
ENST00000463456.5:n.2858C>A
ENST00000472420.5:n.212C>A
ENST00000483489.1:n.289C>A
NM_133259.3:c.3815C>A	NP_573566.2:p.Ala1272Asp
XM_006711915.2:c.3737C>A	XP_006711978.1:p.Ala1246Asp
XM_011532473.1:c.3815C>A	XP_011530775.1:p.Ala1272Asp
XM_011532474.1:c.3815C>A	XP_011530776.1:p.Ala1272Asp
XM_017003117.1:c.3737C>A	XP_016858606.1:p.Ala1246Asp
XR_002958896.1:n.3857C>A
NM_133259.4:c.3815C>A MANE Select	NP_573566.2:p.Ala1272Asp