Canonical Allele Identifier: CA346668068

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145208A>C (hg19) ; chr2:g.43918069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918069A>C , CM000664.2:g.43918069A>C	GRCh38
NC_000002.11:g.44145208A>C , CM000664.1:g.44145208A>C	GRCh37
NC_000002.10:g.43998712A>C	NCBI36
NG_008247.1:g.82937T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.656T>G
ENST00000682295.1:c.303+187T>G	ENSP00000507499.1:n.303+187T>G
ENST00000682303.1:c.*2890T>G	ENSP00000508325.1:n.*2890T>G
ENST00000682308.1:c.3104T>G	ENSP00000507056.1:p.Phe1035Cys
ENST00000682480.1:c.3122T>G	ENSP00000508344.1:p.Phe1041Cys
ENST00000682546.1:c.3101T>G	ENSP00000508188.1:p.Phe1034Cys
ENST00000682585.1:c.3104T>G	ENSP00000506885.1:p.Phe1035Cys
ENST00000682595.1:n.3688T>G
ENST00000682607.1:c.1522T>G
ENST00000682779.1:c.3095T>G	ENSP00000507947.1:p.Phe1032Cys
ENST00000682845.1:n.2206T>G
ENST00000682885.1:c.3059T>G	ENSP00000508036.1:p.Phe1020Cys
ENST00000682933.1:n.3178T>G
ENST00000683072.1:n.3688T>G
ENST00000683080.1:n.723T>G
ENST00000683125.1:c.3212T>G	ENSP00000507939.1:p.Phe1071Cys
ENST00000683213.1:c.3107T>G	ENSP00000507751.1:p.Phe1036Cys
ENST00000683220.1:c.3134T>G	ENSP00000507151.1:p.Phe1045Cys
ENST00000683329.1:n.3907T>G
ENST00000683346.1:c.*2979T>G	ENSP00000507458.1:n.*2979T>G
ENST00000683409.1:n.1711T>G
ENST00000683459.1:n.3691T>G
ENST00000683590.1:c.2897-5511T>G	ENSP00000506820.1:n.2897-5511T>G
ENST00000683623.1:c.3011T>G	ENSP00000507702.1:p.Phe1004Cys
ENST00000683645.1:n.3655T>G
ENST00000683796.1:c.*2976T>G	ENSP00000508221.1:n.*2976T>G
ENST00000683802.1:n.6029T>G
ENST00000683833.1:c.3095T>G	ENSP00000506852.1:p.Phe1032Cys
ENST00000683994.1:c.3104T>G	ENSP00000507181.1:p.Phe1035Cys
ENST00000684290.1:c.*640T>G	ENSP00000507243.1:n.*640T>G
ENST00000684306.1:c.*3017T>G	ENSP00000508384.1:n.*3017T>G
ENST00000684341.1:n.3124T>G
ENST00000684383.1:c.*2742T>G	ENSP00000506863.1:n.*2742T>G
ENST00000684619.1:c.*2976T>G	ENSP00000508088.1:n.*2976T>G
ENST00000684705.1:n.225T>G
ENST00000684743.1:n.4135T>G
ENST00000260665.12:c.3104T>G MANE Select	ENSP00000260665.7:p.Phe1035Cys
ENST00000260665.11:c.3104T>G	ENSP00000260665.7:p.Phe1035Cys
NM_133259.3:c.3104T>G	NP_573566.2:p.Phe1035Cys
XM_006711915.2:c.3026T>G	XP_006711978.1:p.Phe1009Cys
XM_006711916.2:c.3104T>G	XP_006711979.1:p.Phe1035Cys
XM_011532473.1:c.3104T>G	XP_011530775.1:p.Phe1035Cys
XM_011532474.1:c.3104T>G	XP_011530776.1:p.Phe1035Cys
XM_006711916.3:c.3104T>G	XP_006711979.1:p.Phe1035Cys
XM_017003117.1:c.3026T>G	XP_016858606.1:p.Phe1009Cys
XR_002958896.1:n.3146T>G
NM_133259.4:c.3104T>G MANE Select	NP_573566.2:p.Phe1035Cys