Canonical Allele Identifier: CA10613890

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 336148
• ClinVar RCV Id: RCV000326024
• dbSNP Id: rs886056054
• gnomAD v2: 2-44126446-T-C
• gnomAD v3: 2-43899307-T-C
• gnomAD v4: 2-43899307-T-C
• MyVariant Identifiers: chr2:g.44126446T>C (hg19) ; chr2:g.43899307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899307T>C , CM000664.2:g.43899307T>C	GRCh38
NC_000002.11:g.44126446T>C , CM000664.1:g.44126446T>C	GRCh37
NC_000002.10:g.43979950T>C	NCBI36
NG_008247.1:g.101699A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.168A>G
ENST00000472420.6:n.816A>G
ENST00000483489.2:n.168A>G
ENST00000681993.1:n.1289A>G
ENST00000682303.1:c.*3523A>G	ENSP00000508325.1:n.*3523A>G
ENST00000682308.1:c.3737A>G	ENSP00000507056.1:p.Asn1246Ser
ENST00000682434.1:n.1288A>G
ENST00000682480.1:c.3755A>G	ENSP00000508344.1:p.Asn1252Ser
ENST00000682546.1:c.3734A>G	ENSP00000508188.1:p.Asn1245Ser
ENST00000682585.1:c.3737A>G	ENSP00000506885.1:p.Asn1246Ser
ENST00000682595.1:n.4321A>G
ENST00000682607.1:c.2155A>G
ENST00000682612.1:c.589A>G
ENST00000682779.1:c.3728A>G	ENSP00000507947.1:p.Asn1243Ser
ENST00000682845.1:n.2839A>G
ENST00000682885.1:c.3692A>G	ENSP00000508036.1:p.Asn1231Ser
ENST00000682933.1:n.3811A>G
ENST00000683002.1:c.589A>G
ENST00000683072.1:n.4321A>G
ENST00000683080.1:n.1356A>G
ENST00000683125.1:c.3845A>G	ENSP00000507939.1:p.Asn1282Ser
ENST00000683213.1:c.3740A>G	ENSP00000507751.1:p.Asn1247Ser
ENST00000683220.1:c.3767A>G	ENSP00000507151.1:p.Asn1256Ser
ENST00000683329.1:n.4540A>G
ENST00000683346.1:c.*3612A>G	ENSP00000507458.1:n.*3612A>G
ENST00000683409.1:n.2344A>G
ENST00000683459.1:n.4324A>G
ENST00000683528.1:c.665A>G
ENST00000683590.1:c.3485A>G	ENSP00000506820.1:p.Asn1162Ser
ENST00000683623.1:c.3644A>G	ENSP00000507702.1:p.Asn1215Ser
ENST00000683645.1:n.4288A>G
ENST00000683796.1:c.*3609A>G	ENSP00000508221.1:n.*3609A>G
ENST00000683802.1:n.6662A>G
ENST00000683833.1:c.3728A>G	ENSP00000506852.1:p.Asn1243Ser
ENST00000683994.1:c.3737A>G	ENSP00000507181.1:p.Asn1246Ser
ENST00000684290.1:c.*1273A>G	ENSP00000507243.1:n.*1273A>G
ENST00000684306.1:c.*3650A>G	ENSP00000508384.1:n.*3650A>G
ENST00000684341.1:n.3757A>G
ENST00000684383.1:c.*3375A>G	ENSP00000506863.1:n.*3375A>G
ENST00000684418.1:n.4918A>G
ENST00000684433.1:n.121A>G
ENST00000684454.1:n.3087A>G
ENST00000684619.1:c.*3609A>G	ENSP00000508088.1:n.*3609A>G
ENST00000684743.1:n.6482A>G
ENST00000260665.12:c.3737A>G MANE Select	ENSP00000260665.7:p.Asn1246Ser
ENST00000260665.11:c.3737A>G	ENSP00000260665.7:p.Asn1246Ser
ENST00000463456.5:n.2780A>G
ENST00000472420.5:n.134A>G
ENST00000483489.1:n.211A>G
NM_133259.3:c.3737A>G	NP_573566.2:p.Asn1246Ser
XM_006711915.2:c.3659A>G	XP_006711978.1:p.Asn1220Ser
XM_011532473.1:c.3737A>G	XP_011530775.1:p.Asn1246Ser
XM_011532474.1:c.3737A>G	XP_011530776.1:p.Asn1246Ser
XM_017003117.1:c.3659A>G	XP_016858606.1:p.Asn1220Ser
XR_002958896.1:n.3779A>G
NM_133259.4:c.3737A>G MANE Select	NP_573566.2:p.Asn1246Ser