Canonical Allele Identifier: CA1638197

Gene: LRPPRC

Linked Data

• dbSNP Id: rs776821061
• ExAC: 2:44145187 G / A
• gnomAD v2: 2-44145187-G-A
• gnomAD v4: 2-43918048-G-A
• MyVariant Identifiers: chr2:g.44145187G>A (hg19) ; chr2:g.43918048G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.677C>T
ENST00000682295.1:c.303+208C>T	ENSP00000507499.1:n.303+208C>T
ENST00000682303.1:c.*2911C>T	ENSP00000508325.1:n.*2911C>T
ENST00000682308.1:c.3125C>T	ENSP00000507056.1:p.Ala1042Val
ENST00000682480.1:c.3143C>T	ENSP00000508344.1:p.Ala1048Val
ENST00000682546.1:c.3122C>T	ENSP00000508188.1:p.Ala1041Val
ENST00000682585.1:c.3125C>T	ENSP00000506885.1:p.Ala1042Val
ENST00000682595.1:n.3709C>T
ENST00000682607.1:c.1543C>T
ENST00000682779.1:c.3116C>T	ENSP00000507947.1:p.Ala1039Val
ENST00000682845.1:n.2227C>T
ENST00000682885.1:c.3080C>T	ENSP00000508036.1:p.Ala1027Val
ENST00000682933.1:n.3199C>T
ENST00000683072.1:n.3709C>T
ENST00000683080.1:n.744C>T
ENST00000683125.1:c.3233C>T	ENSP00000507939.1:p.Ala1078Val
ENST00000683213.1:c.3128C>T	ENSP00000507751.1:p.Ala1043Val
ENST00000683220.1:c.3155C>T	ENSP00000507151.1:p.Ala1052Val
ENST00000683329.1:n.3928C>T
ENST00000683346.1:c.*3000C>T	ENSP00000507458.1:n.*3000C>T
ENST00000683409.1:n.1732C>T
ENST00000683459.1:n.3712C>T
ENST00000683590.1:c.2897-5490C>T	ENSP00000506820.1:n.2897-5490C>T
ENST00000683623.1:c.3032C>T	ENSP00000507702.1:p.Ala1011Val
ENST00000683645.1:n.3676C>T
ENST00000683796.1:c.*2997C>T	ENSP00000508221.1:n.*2997C>T
ENST00000683802.1:n.6050C>T
ENST00000683833.1:c.3116C>T	ENSP00000506852.1:p.Ala1039Val
ENST00000683994.1:c.3125C>T	ENSP00000507181.1:p.Ala1042Val
ENST00000684290.1:c.*661C>T	ENSP00000507243.1:n.*661C>T
ENST00000684306.1:c.*3038C>T	ENSP00000508384.1:n.*3038C>T
ENST00000684341.1:n.3145C>T
ENST00000684383.1:c.*2763C>T	ENSP00000506863.1:n.*2763C>T
ENST00000684619.1:c.*2997C>T	ENSP00000508088.1:n.*2997C>T
ENST00000684705.1:n.246C>T
ENST00000684743.1:n.4156C>T
ENST00000260665.12:c.3125C>T MANE Select	ENSP00000260665.7:p.Ala1042Val
ENST00000260665.11:c.3125C>T	ENSP00000260665.7:p.Ala1042Val
NM_133259.3:c.3125C>T	NP_573566.2:p.Ala1042Val
XM_006711915.2:c.3047C>T	XP_006711978.1:p.Ala1016Val
XM_006711916.2:c.3125C>T	XP_006711979.1:p.Ala1042Val
XM_011532473.1:c.3125C>T	XP_011530775.1:p.Ala1042Val
XM_011532474.1:c.3125C>T	XP_011530776.1:p.Ala1042Val
XM_006711916.3:c.3125C>T	XP_006711979.1:p.Ala1042Val
XM_017003117.1:c.3047C>T	XP_016858606.1:p.Ala1016Val
XR_002958896.1:n.3167C>T
NM_133259.4:c.3125C>T MANE Select	NP_573566.2:p.Ala1042Val