Canonical Allele Identifier: CA346665125

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43905779-C-G
• MyVariant Identifiers: chr2:g.44132918C>G (hg19) ; chr2:g.43905779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905779C>G , CM000664.2:g.43905779C>G	GRCh38
NC_000002.11:g.44132918C>G , CM000664.1:g.44132918C>G	GRCh37
NC_000002.10:g.43986422C>G	NCBI36
NG_008247.1:g.95227G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.356G>C
ENST00000681993.1:n.829G>C
ENST00000682295.1:c.432G>C	ENSP00000507499.1:n.432G>C
ENST00000682303.1:c.*3063G>C	ENSP00000508325.1:n.*3063G>C
ENST00000682308.1:c.3277G>C	ENSP00000507056.1:p.Ala1093Pro
ENST00000682480.1:c.3295G>C	ENSP00000508344.1:p.Ala1099Pro
ENST00000682546.1:c.3274G>C	ENSP00000508188.1:p.Ala1092Pro
ENST00000682585.1:c.3277G>C	ENSP00000506885.1:p.Ala1093Pro
ENST00000682595.1:n.3861G>C
ENST00000682607.1:c.1695G>C
ENST00000682612.1:c.129G>C
ENST00000682779.1:c.3268G>C	ENSP00000507947.1:p.Ala1090Pro
ENST00000682845.1:n.2379G>C
ENST00000682885.1:c.3232G>C	ENSP00000508036.1:p.Ala1078Pro
ENST00000682933.1:n.3351G>C
ENST00000683002.1:c.129G>C
ENST00000683072.1:n.3861G>C
ENST00000683080.1:n.896G>C
ENST00000683125.1:c.3385G>C	ENSP00000507939.1:p.Ala1129Pro
ENST00000683213.1:c.3280G>C	ENSP00000507751.1:p.Ala1094Pro
ENST00000683220.1:c.3307G>C	ENSP00000507151.1:p.Ala1103Pro
ENST00000683329.1:n.4080G>C
ENST00000683346.1:c.*3152G>C	ENSP00000507458.1:n.*3152G>C
ENST00000683409.1:n.1884G>C
ENST00000683459.1:n.3864G>C
ENST00000683528.1:c.129G>C
ENST00000683590.1:c.3025G>C	ENSP00000506820.1:p.Ala1009Pro
ENST00000683623.1:c.3184G>C	ENSP00000507702.1:p.Ala1062Pro
ENST00000683645.1:n.3828G>C
ENST00000683796.1:c.*3149G>C	ENSP00000508221.1:n.*3149G>C
ENST00000683802.1:n.6202G>C
ENST00000683833.1:c.3268G>C	ENSP00000506852.1:p.Ala1090Pro
ENST00000683994.1:c.3277G>C	ENSP00000507181.1:p.Ala1093Pro
ENST00000684290.1:c.*813G>C	ENSP00000507243.1:n.*813G>C
ENST00000684306.1:c.*3190G>C	ENSP00000508384.1:n.*3190G>C
ENST00000684341.1:n.3297G>C
ENST00000684383.1:c.*2915G>C	ENSP00000506863.1:n.*2915G>C
ENST00000684418.1:n.4458G>C
ENST00000684454.1:n.2627G>C
ENST00000684619.1:c.*3149G>C	ENSP00000508088.1:n.*3149G>C
ENST00000684743.1:n.4308G>C
ENST00000260665.12:c.3277G>C MANE Select	ENSP00000260665.7:p.Ala1093Pro
ENST00000260665.11:c.3277G>C	ENSP00000260665.7:p.Ala1093Pro
NM_133259.3:c.3277G>C	NP_573566.2:p.Ala1093Pro
XM_006711915.2:c.3199G>C	XP_006711978.1:p.Ala1067Pro
XM_011532473.1:c.3277G>C	XP_011530775.1:p.Ala1093Pro
XM_011532474.1:c.3277G>C	XP_011530776.1:p.Ala1093Pro
XM_017003117.1:c.3199G>C	XP_016858606.1:p.Ala1067Pro
XR_002958896.1:n.3319G>C
NM_133259.4:c.3277G>C MANE Select	NP_573566.2:p.Ala1093Pro