Canonical Allele Identifier: CA346676678

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43899307-T-A
• MyVariant Identifiers: chr2:g.44126446T>A (hg19) ; chr2:g.43899307T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899307T>A , CM000664.2:g.43899307T>A	GRCh38
NC_000002.11:g.44126446T>A , CM000664.1:g.44126446T>A	GRCh37
NC_000002.10:g.43979950T>A	NCBI36
NG_008247.1:g.101699A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.168A>T
ENST00000472420.6:n.816A>T
ENST00000483489.2:n.168A>T
ENST00000681993.1:n.1289A>T
ENST00000682303.1:c.*3523A>T	ENSP00000508325.1:n.*3523A>T
ENST00000682308.1:c.3737A>T	ENSP00000507056.1:p.Asn1246Ile
ENST00000682434.1:n.1288A>T
ENST00000682480.1:c.3755A>T	ENSP00000508344.1:p.Asn1252Ile
ENST00000682546.1:c.3734A>T	ENSP00000508188.1:p.Asn1245Ile
ENST00000682585.1:c.3737A>T	ENSP00000506885.1:p.Asn1246Ile
ENST00000682595.1:n.4321A>T
ENST00000682607.1:c.2155A>T
ENST00000682612.1:c.589A>T
ENST00000682779.1:c.3728A>T	ENSP00000507947.1:p.Asn1243Ile
ENST00000682845.1:n.2839A>T
ENST00000682885.1:c.3692A>T	ENSP00000508036.1:p.Asn1231Ile
ENST00000682933.1:n.3811A>T
ENST00000683002.1:c.589A>T
ENST00000683072.1:n.4321A>T
ENST00000683080.1:n.1356A>T
ENST00000683125.1:c.3845A>T	ENSP00000507939.1:p.Asn1282Ile
ENST00000683213.1:c.3740A>T	ENSP00000507751.1:p.Asn1247Ile
ENST00000683220.1:c.3767A>T	ENSP00000507151.1:p.Asn1256Ile
ENST00000683329.1:n.4540A>T
ENST00000683346.1:c.*3612A>T	ENSP00000507458.1:n.*3612A>T
ENST00000683409.1:n.2344A>T
ENST00000683459.1:n.4324A>T
ENST00000683528.1:c.665A>T
ENST00000683590.1:c.3485A>T	ENSP00000506820.1:p.Asn1162Ile
ENST00000683623.1:c.3644A>T	ENSP00000507702.1:p.Asn1215Ile
ENST00000683645.1:n.4288A>T
ENST00000683796.1:c.*3609A>T	ENSP00000508221.1:n.*3609A>T
ENST00000683802.1:n.6662A>T
ENST00000683833.1:c.3728A>T	ENSP00000506852.1:p.Asn1243Ile
ENST00000683994.1:c.3737A>T	ENSP00000507181.1:p.Asn1246Ile
ENST00000684290.1:c.*1273A>T	ENSP00000507243.1:n.*1273A>T
ENST00000684306.1:c.*3650A>T	ENSP00000508384.1:n.*3650A>T
ENST00000684341.1:n.3757A>T
ENST00000684383.1:c.*3375A>T	ENSP00000506863.1:n.*3375A>T
ENST00000684418.1:n.4918A>T
ENST00000684433.1:n.121A>T
ENST00000684454.1:n.3087A>T
ENST00000684619.1:c.*3609A>T	ENSP00000508088.1:n.*3609A>T
ENST00000684743.1:n.6482A>T
ENST00000260665.12:c.3737A>T MANE Select	ENSP00000260665.7:p.Asn1246Ile
ENST00000260665.11:c.3737A>T	ENSP00000260665.7:p.Asn1246Ile
ENST00000463456.5:n.2780A>T
ENST00000472420.5:n.134A>T
ENST00000483489.1:n.211A>T
NM_133259.3:c.3737A>T	NP_573566.2:p.Asn1246Ile
XM_006711915.2:c.3659A>T	XP_006711978.1:p.Asn1220Ile
XM_011532473.1:c.3737A>T	XP_011530775.1:p.Asn1246Ile
XM_011532474.1:c.3737A>T	XP_011530776.1:p.Asn1246Ile
XM_017003117.1:c.3659A>T	XP_016858606.1:p.Asn1220Ile
XR_002958896.1:n.3779A>T
NM_133259.4:c.3737A>T MANE Select	NP_573566.2:p.Asn1246Ile