Canonical Allele Identifier: CA1638107

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2183213
• ClinVar RCV Id: RCV002615401
• dbSNP Id: rs764087602
• ExAC: 2:44132916 C / T
• gnomAD v2: 2-44132916-C-T
• gnomAD v3: 2-43905777-C-T
• gnomAD v4: 2-43905777-C-T
• MyVariant Identifiers: chr2:g.44132916C>T (hg19) ; chr2:g.43905777C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905777C>T , CM000664.2:g.43905777C>T	GRCh38
NC_000002.11:g.44132916C>T , CM000664.1:g.44132916C>T	GRCh37
NC_000002.10:g.43986420C>T	NCBI36
NG_008247.1:g.95229G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.358G>A
ENST00000681993.1:n.831G>A
ENST00000682295.1:c.434G>A	ENSP00000507499.1:n.434G>A
ENST00000682303.1:c.*3065G>A	ENSP00000508325.1:n.*3065G>A
ENST00000682308.1:c.3279G>A	ENSP00000507056.1:p.Ala1093=
ENST00000682480.1:c.3297G>A	ENSP00000508344.1:p.Ala1099=
ENST00000682546.1:c.3276G>A	ENSP00000508188.1:p.Ala1092=
ENST00000682585.1:c.3279G>A	ENSP00000506885.1:p.Ala1093=
ENST00000682595.1:n.3863G>A
ENST00000682607.1:c.1697G>A
ENST00000682612.1:c.131G>A
ENST00000682779.1:c.3270G>A	ENSP00000507947.1:p.Ala1090=
ENST00000682845.1:n.2381G>A
ENST00000682885.1:c.3234G>A	ENSP00000508036.1:p.Ala1078=
ENST00000682933.1:n.3353G>A
ENST00000683002.1:c.131G>A
ENST00000683072.1:n.3863G>A
ENST00000683080.1:n.898G>A
ENST00000683125.1:c.3387G>A	ENSP00000507939.1:p.Ala1129=
ENST00000683213.1:c.3282G>A	ENSP00000507751.1:p.Ala1094=
ENST00000683220.1:c.3309G>A	ENSP00000507151.1:p.Ala1103=
ENST00000683329.1:n.4082G>A
ENST00000683346.1:c.*3154G>A	ENSP00000507458.1:n.*3154G>A
ENST00000683409.1:n.1886G>A
ENST00000683459.1:n.3866G>A
ENST00000683528.1:c.131G>A
ENST00000683590.1:c.3027G>A	ENSP00000506820.1:p.Ala1009=
ENST00000683623.1:c.3186G>A	ENSP00000507702.1:p.Ala1062=
ENST00000683645.1:n.3830G>A
ENST00000683796.1:c.*3151G>A	ENSP00000508221.1:n.*3151G>A
ENST00000683802.1:n.6204G>A
ENST00000683833.1:c.3270G>A	ENSP00000506852.1:p.Ala1090=
ENST00000683994.1:c.3279G>A	ENSP00000507181.1:p.Ala1093=
ENST00000684290.1:c.*815G>A	ENSP00000507243.1:n.*815G>A
ENST00000684306.1:c.*3192G>A	ENSP00000508384.1:n.*3192G>A
ENST00000684341.1:n.3299G>A
ENST00000684383.1:c.*2917G>A	ENSP00000506863.1:n.*2917G>A
ENST00000684418.1:n.4460G>A
ENST00000684454.1:n.2629G>A
ENST00000684619.1:c.*3151G>A	ENSP00000508088.1:n.*3151G>A
ENST00000684743.1:n.4310G>A
ENST00000260665.12:c.3279G>A MANE Select	ENSP00000260665.7:p.Ala1093=
ENST00000260665.11:c.3279G>A	ENSP00000260665.7:p.Ala1093=
NM_133259.3:c.3279G>A	NP_573566.2:p.Ala1093=
XM_006711915.2:c.3201G>A	XP_006711978.1:p.Ala1067=
XM_011532473.1:c.3279G>A	XP_011530775.1:p.Ala1093=
XM_011532474.1:c.3279G>A	XP_011530776.1:p.Ala1093=
XM_017003117.1:c.3201G>A	XP_016858606.1:p.Ala1067=
XR_002958896.1:n.3321G>A
NM_133259.4:c.3279G>A MANE Select	NP_573566.2:p.Ala1093=