Canonical Allele Identifier: CA346667910

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671540083
• gnomAD v3: 2-43918037-T-A
• gnomAD v4: 2-43918037-T-A
• MyVariant Identifiers: chr2:g.44145176T>A (hg19) ; chr2:g.43918037T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918037T>A , CM000664.2:g.43918037T>A	GRCh38
NC_000002.11:g.44145176T>A , CM000664.1:g.44145176T>A	GRCh37
NC_000002.10:g.43998680T>A	NCBI36
NG_008247.1:g.82969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.688A>T
ENST00000682295.1:c.303+219A>T	ENSP00000507499.1:n.303+219A>T
ENST00000682303.1:c.*2922A>T	ENSP00000508325.1:n.*2922A>T
ENST00000682308.1:c.3136A>T	ENSP00000507056.1:p.Asn1046Tyr
ENST00000682480.1:c.3154A>T	ENSP00000508344.1:p.Asn1052Tyr
ENST00000682546.1:c.3133A>T	ENSP00000508188.1:p.Asn1045Tyr
ENST00000682585.1:c.3136A>T	ENSP00000506885.1:p.Asn1046Tyr
ENST00000682595.1:n.3720A>T
ENST00000682607.1:c.1554A>T
ENST00000682779.1:c.3127A>T	ENSP00000507947.1:p.Asn1043Tyr
ENST00000682845.1:n.2238A>T
ENST00000682885.1:c.3091A>T	ENSP00000508036.1:p.Asn1031Tyr
ENST00000682933.1:n.3210A>T
ENST00000683072.1:n.3720A>T
ENST00000683080.1:n.755A>T
ENST00000683125.1:c.3244A>T	ENSP00000507939.1:p.Asn1082Tyr
ENST00000683213.1:c.3139A>T	ENSP00000507751.1:p.Asn1047Tyr
ENST00000683220.1:c.3166A>T	ENSP00000507151.1:p.Asn1056Tyr
ENST00000683329.1:n.3939A>T
ENST00000683346.1:c.*3011A>T	ENSP00000507458.1:n.*3011A>T
ENST00000683409.1:n.1743A>T
ENST00000683459.1:n.3723A>T
ENST00000683590.1:c.2897-5479A>T	ENSP00000506820.1:n.2897-5479A>T
ENST00000683623.1:c.3043A>T	ENSP00000507702.1:p.Asn1015Tyr
ENST00000683645.1:n.3687A>T
ENST00000683796.1:c.*3008A>T	ENSP00000508221.1:n.*3008A>T
ENST00000683802.1:n.6061A>T
ENST00000683833.1:c.3127A>T	ENSP00000506852.1:p.Asn1043Tyr
ENST00000683994.1:c.3136A>T	ENSP00000507181.1:p.Asn1046Tyr
ENST00000684290.1:c.*672A>T	ENSP00000507243.1:n.*672A>T
ENST00000684306.1:c.*3049A>T	ENSP00000508384.1:n.*3049A>T
ENST00000684341.1:n.3156A>T
ENST00000684383.1:c.*2774A>T	ENSP00000506863.1:n.*2774A>T
ENST00000684619.1:c.*3008A>T	ENSP00000508088.1:n.*3008A>T
ENST00000684705.1:n.257A>T
ENST00000684743.1:n.4167A>T
ENST00000260665.12:c.3136A>T MANE Select	ENSP00000260665.7:p.Asn1046Tyr
ENST00000260665.11:c.3136A>T	ENSP00000260665.7:p.Asn1046Tyr
NM_133259.3:c.3136A>T	NP_573566.2:p.Asn1046Tyr
XM_006711915.2:c.3058A>T	XP_006711978.1:p.Asn1020Tyr
XM_006711916.2:c.3136A>T	XP_006711979.1:p.Asn1046Tyr
XM_011532473.1:c.3136A>T	XP_011530775.1:p.Asn1046Tyr
XM_011532474.1:c.3136A>T	XP_011530776.1:p.Asn1046Tyr
XM_006711916.3:c.3136A>T	XP_006711979.1:p.Asn1046Tyr
XM_017003117.1:c.3058A>T	XP_016858606.1:p.Asn1020Tyr
XR_002958896.1:n.3178A>T
NM_133259.4:c.3136A>T MANE Select	NP_573566.2:p.Asn1046Tyr