Canonical Allele Identifier: CA346664868

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671044644
• MyVariant Identifiers: chr2:g.44132840A>T (hg19) ; chr2:g.43905701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905701A>T , CM000664.2:g.43905701A>T	GRCh38
NC_000002.11:g.44132840A>T , CM000664.1:g.44132840A>T	GRCh37
NC_000002.10:g.43986344A>T	NCBI36
NG_008247.1:g.95305T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.434T>A
ENST00000681993.1:n.907T>A
ENST00000682295.1:c.510T>A	ENSP00000507499.1:n.510T>A
ENST00000682303.1:c.*3141T>A	ENSP00000508325.1:n.*3141T>A
ENST00000682308.1:c.3355T>A	ENSP00000507056.1:p.Tyr1119Asn
ENST00000682480.1:c.3373T>A	ENSP00000508344.1:p.Tyr1125Asn
ENST00000682546.1:c.3352T>A	ENSP00000508188.1:p.Tyr1118Asn
ENST00000682585.1:c.3355T>A	ENSP00000506885.1:p.Tyr1119Asn
ENST00000682595.1:n.3939T>A
ENST00000682607.1:c.1773T>A
ENST00000682612.1:c.207T>A
ENST00000682779.1:c.3346T>A	ENSP00000507947.1:p.Tyr1116Asn
ENST00000682845.1:n.2457T>A
ENST00000682885.1:c.3310T>A	ENSP00000508036.1:p.Tyr1104Asn
ENST00000682933.1:n.3429T>A
ENST00000683002.1:c.207T>A
ENST00000683072.1:n.3939T>A
ENST00000683080.1:n.974T>A
ENST00000683125.1:c.3463T>A	ENSP00000507939.1:p.Tyr1155Asn
ENST00000683213.1:c.3358T>A	ENSP00000507751.1:p.Tyr1120Asn
ENST00000683220.1:c.3385T>A	ENSP00000507151.1:p.Tyr1129Asn
ENST00000683329.1:n.4158T>A
ENST00000683346.1:c.*3230T>A	ENSP00000507458.1:n.*3230T>A
ENST00000683409.1:n.1962T>A
ENST00000683459.1:n.3942T>A
ENST00000683528.1:c.207T>A
ENST00000683590.1:c.3103T>A	ENSP00000506820.1:p.Tyr1035Asn
ENST00000683623.1:c.3262T>A	ENSP00000507702.1:p.Tyr1088Asn
ENST00000683645.1:n.3906T>A
ENST00000683796.1:c.*3227T>A	ENSP00000508221.1:n.*3227T>A
ENST00000683802.1:n.6280T>A
ENST00000683833.1:c.3346T>A	ENSP00000506852.1:p.Tyr1116Asn
ENST00000683994.1:c.3355T>A	ENSP00000507181.1:p.Tyr1119Asn
ENST00000684290.1:c.*891T>A	ENSP00000507243.1:n.*891T>A
ENST00000684306.1:c.*3268T>A	ENSP00000508384.1:n.*3268T>A
ENST00000684341.1:n.3375T>A
ENST00000684383.1:c.*2993T>A	ENSP00000506863.1:n.*2993T>A
ENST00000684418.1:n.4536T>A
ENST00000684454.1:n.2705T>A
ENST00000684619.1:c.*3227T>A	ENSP00000508088.1:n.*3227T>A
ENST00000684743.1:n.4386T>A
ENST00000260665.12:c.3355T>A MANE Select	ENSP00000260665.7:p.Tyr1119Asn
ENST00000260665.11:c.3355T>A	ENSP00000260665.7:p.Tyr1119Asn
NM_133259.3:c.3355T>A	NP_573566.2:p.Tyr1119Asn
XM_006711915.2:c.3277T>A	XP_006711978.1:p.Tyr1093Asn
XM_011532473.1:c.3355T>A	XP_011530775.1:p.Tyr1119Asn
XM_011532474.1:c.3355T>A	XP_011530776.1:p.Tyr1119Asn
XM_017003117.1:c.3277T>A	XP_016858606.1:p.Tyr1093Asn
XR_002958896.1:n.3397T>A
NM_133259.4:c.3355T>A MANE Select	NP_573566.2:p.Tyr1119Asn