Canonical Allele Identifier: CA346667963

Gene: LRPPRC

Linked Data

• dbSNP Id: rs776821061
• gnomAD v2: 2-44145187-G-T
• MyVariant Identifiers: chr2:g.44145187G>T (hg19) ; chr2:g.43918048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918048G>T , CM000664.2:g.43918048G>T	GRCh38
NC_000002.11:g.44145187G>T , CM000664.1:g.44145187G>T	GRCh37
NC_000002.10:g.43998691G>T	NCBI36
NG_008247.1:g.82958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.677C>A
ENST00000682295.1:c.303+208C>A	ENSP00000507499.1:n.303+208C>A
ENST00000682303.1:c.*2911C>A	ENSP00000508325.1:n.*2911C>A
ENST00000682308.1:c.3125C>A	ENSP00000507056.1:p.Ala1042Asp
ENST00000682480.1:c.3143C>A	ENSP00000508344.1:p.Ala1048Asp
ENST00000682546.1:c.3122C>A	ENSP00000508188.1:p.Ala1041Asp
ENST00000682585.1:c.3125C>A	ENSP00000506885.1:p.Ala1042Asp
ENST00000682595.1:n.3709C>A
ENST00000682607.1:c.1543C>A
ENST00000682779.1:c.3116C>A	ENSP00000507947.1:p.Ala1039Asp
ENST00000682845.1:n.2227C>A
ENST00000682885.1:c.3080C>A	ENSP00000508036.1:p.Ala1027Asp
ENST00000682933.1:n.3199C>A
ENST00000683072.1:n.3709C>A
ENST00000683080.1:n.744C>A
ENST00000683125.1:c.3233C>A	ENSP00000507939.1:p.Ala1078Asp
ENST00000683213.1:c.3128C>A	ENSP00000507751.1:p.Ala1043Asp
ENST00000683220.1:c.3155C>A	ENSP00000507151.1:p.Ala1052Asp
ENST00000683329.1:n.3928C>A
ENST00000683346.1:c.*3000C>A	ENSP00000507458.1:n.*3000C>A
ENST00000683409.1:n.1732C>A
ENST00000683459.1:n.3712C>A
ENST00000683590.1:c.2897-5490C>A	ENSP00000506820.1:n.2897-5490C>A
ENST00000683623.1:c.3032C>A	ENSP00000507702.1:p.Ala1011Asp
ENST00000683645.1:n.3676C>A
ENST00000683796.1:c.*2997C>A	ENSP00000508221.1:n.*2997C>A
ENST00000683802.1:n.6050C>A
ENST00000683833.1:c.3116C>A	ENSP00000506852.1:p.Ala1039Asp
ENST00000683994.1:c.3125C>A	ENSP00000507181.1:p.Ala1042Asp
ENST00000684290.1:c.*661C>A	ENSP00000507243.1:n.*661C>A
ENST00000684306.1:c.*3038C>A	ENSP00000508384.1:n.*3038C>A
ENST00000684341.1:n.3145C>A
ENST00000684383.1:c.*2763C>A	ENSP00000506863.1:n.*2763C>A
ENST00000684619.1:c.*2997C>A	ENSP00000508088.1:n.*2997C>A
ENST00000684705.1:n.246C>A
ENST00000684743.1:n.4156C>A
ENST00000260665.12:c.3125C>A MANE Select	ENSP00000260665.7:p.Ala1042Asp
ENST00000260665.11:c.3125C>A	ENSP00000260665.7:p.Ala1042Asp
NM_133259.3:c.3125C>A	NP_573566.2:p.Ala1042Asp
XM_006711915.2:c.3047C>A	XP_006711978.1:p.Ala1016Asp
XM_006711916.2:c.3125C>A	XP_006711979.1:p.Ala1042Asp
XM_011532473.1:c.3125C>A	XP_011530775.1:p.Ala1042Asp
XM_011532474.1:c.3125C>A	XP_011530776.1:p.Ala1042Asp
XM_006711916.3:c.3125C>A	XP_006711979.1:p.Ala1042Asp
XM_017003117.1:c.3047C>A	XP_016858606.1:p.Ala1016Asp
XR_002958896.1:n.3167C>A
NM_133259.4:c.3125C>A MANE Select	NP_573566.2:p.Ala1042Asp