Canonical Allele Identifier: CA346665065

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132888T>G (hg19) ; chr2:g.43905749T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905749T>G , CM000664.2:g.43905749T>G	GRCh38
NC_000002.11:g.44132888T>G , CM000664.1:g.44132888T>G	GRCh37
NC_000002.10:g.43986392T>G	NCBI36
NG_008247.1:g.95257A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.386A>C
ENST00000681993.1:n.859A>C
ENST00000682295.1:c.462A>C	ENSP00000507499.1:n.462A>C
ENST00000682303.1:c.*3093A>C	ENSP00000508325.1:n.*3093A>C
ENST00000682308.1:c.3307A>C	ENSP00000507056.1:p.Asn1103His
ENST00000682480.1:c.3325A>C	ENSP00000508344.1:p.Asn1109His
ENST00000682546.1:c.3304A>C	ENSP00000508188.1:p.Asn1102His
ENST00000682585.1:c.3307A>C	ENSP00000506885.1:p.Asn1103His
ENST00000682595.1:n.3891A>C
ENST00000682607.1:c.1725A>C
ENST00000682612.1:c.159A>C
ENST00000682779.1:c.3298A>C	ENSP00000507947.1:p.Asn1100His
ENST00000682845.1:n.2409A>C
ENST00000682885.1:c.3262A>C	ENSP00000508036.1:p.Asn1088His
ENST00000682933.1:n.3381A>C
ENST00000683002.1:c.159A>C
ENST00000683072.1:n.3891A>C
ENST00000683080.1:n.926A>C
ENST00000683125.1:c.3415A>C	ENSP00000507939.1:p.Asn1139His
ENST00000683213.1:c.3310A>C	ENSP00000507751.1:p.Asn1104His
ENST00000683220.1:c.3337A>C	ENSP00000507151.1:p.Asn1113His
ENST00000683329.1:n.4110A>C
ENST00000683346.1:c.*3182A>C	ENSP00000507458.1:n.*3182A>C
ENST00000683409.1:n.1914A>C
ENST00000683459.1:n.3894A>C
ENST00000683528.1:c.159A>C
ENST00000683590.1:c.3055A>C	ENSP00000506820.1:p.Asn1019His
ENST00000683623.1:c.3214A>C	ENSP00000507702.1:p.Asn1072His
ENST00000683645.1:n.3858A>C
ENST00000683796.1:c.*3179A>C	ENSP00000508221.1:n.*3179A>C
ENST00000683802.1:n.6232A>C
ENST00000683833.1:c.3298A>C	ENSP00000506852.1:p.Asn1100His
ENST00000683994.1:c.3307A>C	ENSP00000507181.1:p.Asn1103His
ENST00000684290.1:c.*843A>C	ENSP00000507243.1:n.*843A>C
ENST00000684306.1:c.*3220A>C	ENSP00000508384.1:n.*3220A>C
ENST00000684341.1:n.3327A>C
ENST00000684383.1:c.*2945A>C	ENSP00000506863.1:n.*2945A>C
ENST00000684418.1:n.4488A>C
ENST00000684454.1:n.2657A>C
ENST00000684619.1:c.*3179A>C	ENSP00000508088.1:n.*3179A>C
ENST00000684743.1:n.4338A>C
ENST00000260665.12:c.3307A>C MANE Select	ENSP00000260665.7:p.Asn1103His
ENST00000260665.11:c.3307A>C	ENSP00000260665.7:p.Asn1103His
NM_133259.3:c.3307A>C	NP_573566.2:p.Asn1103His
XM_006711915.2:c.3229A>C	XP_006711978.1:p.Asn1077His
XM_011532473.1:c.3307A>C	XP_011530775.1:p.Asn1103His
XM_011532474.1:c.3307A>C	XP_011530776.1:p.Asn1103His
XM_017003117.1:c.3229A>C	XP_016858606.1:p.Asn1077His
XR_002958896.1:n.3349A>C
NM_133259.4:c.3307A>C MANE Select	NP_573566.2:p.Asn1103His