Canonical Allele Identifier: CA346676683

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126447T>A (hg19) ; chr2:g.43899308T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899308T>A , CM000664.2:g.43899308T>A	GRCh38
NC_000002.11:g.44126447T>A , CM000664.1:g.44126447T>A	GRCh37
NC_000002.10:g.43979951T>A	NCBI36
NG_008247.1:g.101698A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.167A>T
ENST00000472420.6:n.815A>T
ENST00000483489.2:n.167A>T
ENST00000681993.1:n.1288A>T
ENST00000682303.1:c.*3522A>T	ENSP00000508325.1:n.*3522A>T
ENST00000682308.1:c.3736A>T	ENSP00000507056.1:p.Asn1246Tyr
ENST00000682434.1:n.1287A>T
ENST00000682480.1:c.3754A>T	ENSP00000508344.1:p.Asn1252Tyr
ENST00000682546.1:c.3733A>T	ENSP00000508188.1:p.Asn1245Tyr
ENST00000682585.1:c.3736A>T	ENSP00000506885.1:p.Asn1246Tyr
ENST00000682595.1:n.4320A>T
ENST00000682607.1:c.2154A>T
ENST00000682612.1:c.588A>T
ENST00000682779.1:c.3727A>T	ENSP00000507947.1:p.Asn1243Tyr
ENST00000682845.1:n.2838A>T
ENST00000682885.1:c.3691A>T	ENSP00000508036.1:p.Asn1231Tyr
ENST00000682933.1:n.3810A>T
ENST00000683002.1:c.588A>T
ENST00000683072.1:n.4320A>T
ENST00000683080.1:n.1355A>T
ENST00000683125.1:c.3844A>T	ENSP00000507939.1:p.Asn1282Tyr
ENST00000683213.1:c.3739A>T	ENSP00000507751.1:p.Asn1247Tyr
ENST00000683220.1:c.3766A>T	ENSP00000507151.1:p.Asn1256Tyr
ENST00000683329.1:n.4539A>T
ENST00000683346.1:c.*3611A>T	ENSP00000507458.1:n.*3611A>T
ENST00000683409.1:n.2343A>T
ENST00000683459.1:n.4323A>T
ENST00000683528.1:c.664A>T
ENST00000683590.1:c.3484A>T	ENSP00000506820.1:p.Asn1162Tyr
ENST00000683623.1:c.3643A>T	ENSP00000507702.1:p.Asn1215Tyr
ENST00000683645.1:n.4287A>T
ENST00000683796.1:c.*3608A>T	ENSP00000508221.1:n.*3608A>T
ENST00000683802.1:n.6661A>T
ENST00000683833.1:c.3727A>T	ENSP00000506852.1:p.Asn1243Tyr
ENST00000683994.1:c.3736A>T	ENSP00000507181.1:p.Asn1246Tyr
ENST00000684290.1:c.*1272A>T	ENSP00000507243.1:n.*1272A>T
ENST00000684306.1:c.*3649A>T	ENSP00000508384.1:n.*3649A>T
ENST00000684341.1:n.3756A>T
ENST00000684383.1:c.*3374A>T	ENSP00000506863.1:n.*3374A>T
ENST00000684418.1:n.4917A>T
ENST00000684433.1:n.120A>T
ENST00000684454.1:n.3086A>T
ENST00000684619.1:c.*3608A>T	ENSP00000508088.1:n.*3608A>T
ENST00000684743.1:n.6481A>T
ENST00000260665.12:c.3736A>T MANE Select	ENSP00000260665.7:p.Asn1246Tyr
ENST00000260665.11:c.3736A>T	ENSP00000260665.7:p.Asn1246Tyr
ENST00000463456.5:n.2779A>T
ENST00000472420.5:n.133A>T
ENST00000483489.1:n.210A>T
NM_133259.3:c.3736A>T	NP_573566.2:p.Asn1246Tyr
XM_006711915.2:c.3658A>T	XP_006711978.1:p.Asn1220Tyr
XM_011532473.1:c.3736A>T	XP_011530775.1:p.Asn1246Tyr
XM_011532474.1:c.3736A>T	XP_011530776.1:p.Asn1246Tyr
XM_017003117.1:c.3658A>T	XP_016858606.1:p.Asn1220Tyr
XR_002958896.1:n.3778A>T
NM_133259.4:c.3736A>T MANE Select	NP_573566.2:p.Asn1246Tyr