Canonical Allele Identifier: CA346668272

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43918113-T-G
• MyVariant Identifiers: chr2:g.44145252T>G (hg19) ; chr2:g.43918113T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918113T>G , CM000664.2:g.43918113T>G	GRCh38
NC_000002.11:g.44145252T>G , CM000664.1:g.44145252T>G	GRCh37
NC_000002.10:g.43998756T>G	NCBI36
NG_008247.1:g.82893A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.612A>C
ENST00000682295.1:c.303+143A>C	ENSP00000507499.1:n.303+143A>C
ENST00000682303.1:c.*2846A>C	ENSP00000508325.1:n.*2846A>C
ENST00000682308.1:c.3060A>C	ENSP00000507056.1:p.Lys1020Asn
ENST00000682480.1:c.3078A>C	ENSP00000508344.1:p.Lys1026Asn
ENST00000682546.1:c.3057A>C	ENSP00000508188.1:p.Lys1019Asn
ENST00000682585.1:c.3060A>C	ENSP00000506885.1:p.Lys1020Asn
ENST00000682595.1:n.3644A>C
ENST00000682607.1:c.1478A>C
ENST00000682779.1:c.3051A>C	ENSP00000507947.1:p.Lys1017Asn
ENST00000682845.1:n.2162A>C
ENST00000682885.1:c.3015A>C	ENSP00000508036.1:p.Lys1005Asn
ENST00000682933.1:n.3134A>C
ENST00000683072.1:n.3644A>C
ENST00000683080.1:n.679A>C
ENST00000683125.1:c.3168A>C	ENSP00000507939.1:p.Lys1056Asn
ENST00000683213.1:c.3063A>C	ENSP00000507751.1:p.Lys1021Asn
ENST00000683220.1:c.3090A>C	ENSP00000507151.1:p.Lys1030Asn
ENST00000683329.1:n.3863A>C
ENST00000683346.1:c.*2935A>C	ENSP00000507458.1:n.*2935A>C
ENST00000683409.1:n.1667A>C
ENST00000683459.1:n.3647A>C
ENST00000683590.1:c.2897-5555A>C	ENSP00000506820.1:n.2897-5555A>C
ENST00000683623.1:c.2967A>C	ENSP00000507702.1:p.Lys989Asn
ENST00000683645.1:n.3611A>C
ENST00000683796.1:c.*2932A>C	ENSP00000508221.1:n.*2932A>C
ENST00000683802.1:n.5985A>C
ENST00000683833.1:c.3051A>C	ENSP00000506852.1:p.Lys1017Asn
ENST00000683994.1:c.3060A>C	ENSP00000507181.1:p.Lys1020Asn
ENST00000684290.1:c.*596A>C	ENSP00000507243.1:n.*596A>C
ENST00000684306.1:c.*2973A>C	ENSP00000508384.1:n.*2973A>C
ENST00000684341.1:n.3080A>C
ENST00000684383.1:c.*2698A>C	ENSP00000506863.1:n.*2698A>C
ENST00000684619.1:c.*2932A>C	ENSP00000508088.1:n.*2932A>C
ENST00000684705.1:n.181A>C
ENST00000684743.1:n.4091A>C
ENST00000260665.12:c.3060A>C MANE Select	ENSP00000260665.7:p.Lys1020Asn
ENST00000260665.11:c.3060A>C	ENSP00000260665.7:p.Lys1020Asn
NM_133259.3:c.3060A>C	NP_573566.2:p.Lys1020Asn
XM_006711915.2:c.2982A>C	XP_006711978.1:p.Lys994Asn
XM_006711916.2:c.3060A>C	XP_006711979.1:p.Lys1020Asn
XM_011532473.1:c.3060A>C	XP_011530775.1:p.Lys1020Asn
XM_011532474.1:c.3060A>C	XP_011530776.1:p.Lys1020Asn
XM_006711916.3:c.3060A>C	XP_006711979.1:p.Lys1020Asn
XM_017003117.1:c.2982A>C	XP_016858606.1:p.Lys994Asn
XR_002958896.1:n.3102A>C
NM_133259.4:c.3060A>C MANE Select	NP_573566.2:p.Lys1020Asn