Canonical Allele Identifier: CA346665063

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905748-T-C
• MyVariant Identifiers: chr2:g.44132887T>C (hg19) ; chr2:g.43905748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905748T>C , CM000664.2:g.43905748T>C	GRCh38
NC_000002.11:g.44132887T>C , CM000664.1:g.44132887T>C	GRCh37
NC_000002.10:g.43986391T>C	NCBI36
NG_008247.1:g.95258A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.387A>G
ENST00000681993.1:n.860A>G
ENST00000682295.1:c.463A>G	ENSP00000507499.1:n.463A>G
ENST00000682303.1:c.*3094A>G	ENSP00000508325.1:n.*3094A>G
ENST00000682308.1:c.3308A>G	ENSP00000507056.1:p.Asn1103Ser
ENST00000682480.1:c.3326A>G	ENSP00000508344.1:p.Asn1109Ser
ENST00000682546.1:c.3305A>G	ENSP00000508188.1:p.Asn1102Ser
ENST00000682585.1:c.3308A>G	ENSP00000506885.1:p.Asn1103Ser
ENST00000682595.1:n.3892A>G
ENST00000682607.1:c.1726A>G
ENST00000682612.1:c.160A>G
ENST00000682779.1:c.3299A>G	ENSP00000507947.1:p.Asn1100Ser
ENST00000682845.1:n.2410A>G
ENST00000682885.1:c.3263A>G	ENSP00000508036.1:p.Asn1088Ser
ENST00000682933.1:n.3382A>G
ENST00000683002.1:c.160A>G
ENST00000683072.1:n.3892A>G
ENST00000683080.1:n.927A>G
ENST00000683125.1:c.3416A>G	ENSP00000507939.1:p.Asn1139Ser
ENST00000683213.1:c.3311A>G	ENSP00000507751.1:p.Asn1104Ser
ENST00000683220.1:c.3338A>G	ENSP00000507151.1:p.Asn1113Ser
ENST00000683329.1:n.4111A>G
ENST00000683346.1:c.*3183A>G	ENSP00000507458.1:n.*3183A>G
ENST00000683409.1:n.1915A>G
ENST00000683459.1:n.3895A>G
ENST00000683528.1:c.160A>G
ENST00000683590.1:c.3056A>G	ENSP00000506820.1:p.Asn1019Ser
ENST00000683623.1:c.3215A>G	ENSP00000507702.1:p.Asn1072Ser
ENST00000683645.1:n.3859A>G
ENST00000683796.1:c.*3180A>G	ENSP00000508221.1:n.*3180A>G
ENST00000683802.1:n.6233A>G
ENST00000683833.1:c.3299A>G	ENSP00000506852.1:p.Asn1100Ser
ENST00000683994.1:c.3308A>G	ENSP00000507181.1:p.Asn1103Ser
ENST00000684290.1:c.*844A>G	ENSP00000507243.1:n.*844A>G
ENST00000684306.1:c.*3221A>G	ENSP00000508384.1:n.*3221A>G
ENST00000684341.1:n.3328A>G
ENST00000684383.1:c.*2946A>G	ENSP00000506863.1:n.*2946A>G
ENST00000684418.1:n.4489A>G
ENST00000684454.1:n.2658A>G
ENST00000684619.1:c.*3180A>G	ENSP00000508088.1:n.*3180A>G
ENST00000684743.1:n.4339A>G
ENST00000260665.12:c.3308A>G MANE Select	ENSP00000260665.7:p.Asn1103Ser
ENST00000260665.11:c.3308A>G	ENSP00000260665.7:p.Asn1103Ser
NM_133259.3:c.3308A>G	NP_573566.2:p.Asn1103Ser
XM_006711915.2:c.3230A>G	XP_006711978.1:p.Asn1077Ser
XM_011532473.1:c.3308A>G	XP_011530775.1:p.Asn1103Ser
XM_011532474.1:c.3308A>G	XP_011530776.1:p.Asn1103Ser
XM_017003117.1:c.3230A>G	XP_016858606.1:p.Asn1077Ser
XR_002958896.1:n.3350A>G
NM_133259.4:c.3308A>G MANE Select	NP_573566.2:p.Asn1103Ser