Canonical Allele Identifier: CA346676687

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.167A>C
ENST00000472420.6:n.815A>C
ENST00000483489.2:n.167A>C
ENST00000681993.1:n.1288A>C
ENST00000682303.1:c.*3522A>C	ENSP00000508325.1:n.*3522A>C
ENST00000682308.1:c.3736A>C	ENSP00000507056.1:p.Asn1246His
ENST00000682434.1:n.1287A>C
ENST00000682480.1:c.3754A>C	ENSP00000508344.1:p.Asn1252His
ENST00000682546.1:c.3733A>C	ENSP00000508188.1:p.Asn1245His
ENST00000682585.1:c.3736A>C	ENSP00000506885.1:p.Asn1246His
ENST00000682595.1:n.4320A>C
ENST00000682607.1:c.2154A>C
ENST00000682612.1:c.588A>C
ENST00000682779.1:c.3727A>C	ENSP00000507947.1:p.Asn1243His
ENST00000682845.1:n.2838A>C
ENST00000682885.1:c.3691A>C	ENSP00000508036.1:p.Asn1231His
ENST00000682933.1:n.3810A>C
ENST00000683002.1:c.588A>C
ENST00000683072.1:n.4320A>C
ENST00000683080.1:n.1355A>C
ENST00000683125.1:c.3844A>C	ENSP00000507939.1:p.Asn1282His
ENST00000683213.1:c.3739A>C	ENSP00000507751.1:p.Asn1247His
ENST00000683220.1:c.3766A>C	ENSP00000507151.1:p.Asn1256His
ENST00000683329.1:n.4539A>C
ENST00000683346.1:c.*3611A>C	ENSP00000507458.1:n.*3611A>C
ENST00000683409.1:n.2343A>C
ENST00000683459.1:n.4323A>C
ENST00000683528.1:c.664A>C
ENST00000683590.1:c.3484A>C	ENSP00000506820.1:p.Asn1162His
ENST00000683623.1:c.3643A>C	ENSP00000507702.1:p.Asn1215His
ENST00000683645.1:n.4287A>C
ENST00000683796.1:c.*3608A>C	ENSP00000508221.1:n.*3608A>C
ENST00000683802.1:n.6661A>C
ENST00000683833.1:c.3727A>C	ENSP00000506852.1:p.Asn1243His
ENST00000683994.1:c.3736A>C	ENSP00000507181.1:p.Asn1246His
ENST00000684290.1:c.*1272A>C	ENSP00000507243.1:n.*1272A>C
ENST00000684306.1:c.*3649A>C	ENSP00000508384.1:n.*3649A>C
ENST00000684341.1:n.3756A>C
ENST00000684383.1:c.*3374A>C	ENSP00000506863.1:n.*3374A>C
ENST00000684418.1:n.4917A>C
ENST00000684433.1:n.120A>C
ENST00000684454.1:n.3086A>C
ENST00000684619.1:c.*3608A>C	ENSP00000508088.1:n.*3608A>C
ENST00000684743.1:n.6481A>C
ENST00000260665.12:c.3736A>C MANE Select	ENSP00000260665.7:p.Asn1246His
ENST00000260665.11:c.3736A>C	ENSP00000260665.7:p.Asn1246His
ENST00000463456.5:n.2779A>C
ENST00000472420.5:n.133A>C
ENST00000483489.1:n.210A>C
NM_133259.3:c.3736A>C	NP_573566.2:p.Asn1246His
XM_006711915.2:c.3658A>C	XP_006711978.1:p.Asn1220His
XM_011532473.1:c.3736A>C	XP_011530775.1:p.Asn1246His
XM_011532474.1:c.3736A>C	XP_011530776.1:p.Asn1246His
XM_017003117.1:c.3658A>C	XP_016858606.1:p.Asn1220His
XR_002958896.1:n.3778A>C
NM_133259.4:c.3736A>C MANE Select	NP_573566.2:p.Asn1246His