Canonical Allele Identifier: CA346668330

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145262T>G (hg19) ; chr2:g.43918123T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918123T>G , CM000664.2:g.43918123T>G	GRCh38
NC_000002.11:g.44145262T>G , CM000664.1:g.44145262T>G	GRCh37
NC_000002.10:g.43998766T>G	NCBI36
NG_008247.1:g.82883A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.602A>C
ENST00000682295.1:c.303+133A>C	ENSP00000507499.1:n.303+133A>C
ENST00000682303.1:c.*2836A>C	ENSP00000508325.1:n.*2836A>C
ENST00000682308.1:c.3050A>C	ENSP00000507056.1:p.Glu1017Ala
ENST00000682480.1:c.3068A>C	ENSP00000508344.1:p.Glu1023Ala
ENST00000682546.1:c.3047A>C	ENSP00000508188.1:p.Glu1016Ala
ENST00000682585.1:c.3050A>C	ENSP00000506885.1:p.Glu1017Ala
ENST00000682595.1:n.3634A>C
ENST00000682607.1:c.1468A>C
ENST00000682779.1:c.3041A>C	ENSP00000507947.1:p.Glu1014Ala
ENST00000682845.1:n.2152A>C
ENST00000682885.1:c.3005A>C	ENSP00000508036.1:p.Glu1002Ala
ENST00000682933.1:n.3124A>C
ENST00000683072.1:n.3634A>C
ENST00000683080.1:n.669A>C
ENST00000683125.1:c.3158A>C	ENSP00000507939.1:p.Glu1053Ala
ENST00000683213.1:c.3053A>C	ENSP00000507751.1:p.Glu1018Ala
ENST00000683220.1:c.3080A>C	ENSP00000507151.1:p.Glu1027Ala
ENST00000683329.1:n.3853A>C
ENST00000683346.1:c.*2925A>C	ENSP00000507458.1:n.*2925A>C
ENST00000683409.1:n.1657A>C
ENST00000683459.1:n.3637A>C
ENST00000683590.1:c.2897-5565A>C	ENSP00000506820.1:n.2897-5565A>C
ENST00000683623.1:c.2957A>C	ENSP00000507702.1:p.Glu986Ala
ENST00000683645.1:n.3601A>C
ENST00000683796.1:c.*2922A>C	ENSP00000508221.1:n.*2922A>C
ENST00000683802.1:n.5975A>C
ENST00000683833.1:c.3041A>C	ENSP00000506852.1:p.Glu1014Ala
ENST00000683994.1:c.3050A>C	ENSP00000507181.1:p.Glu1017Ala
ENST00000684290.1:c.*586A>C	ENSP00000507243.1:n.*586A>C
ENST00000684306.1:c.*2963A>C	ENSP00000508384.1:n.*2963A>C
ENST00000684341.1:n.3070A>C
ENST00000684383.1:c.*2688A>C	ENSP00000506863.1:n.*2688A>C
ENST00000684619.1:c.*2922A>C	ENSP00000508088.1:n.*2922A>C
ENST00000684705.1:n.171A>C
ENST00000684743.1:n.4081A>C
ENST00000260665.12:c.3050A>C MANE Select	ENSP00000260665.7:p.Glu1017Ala
ENST00000260665.11:c.3050A>C	ENSP00000260665.7:p.Glu1017Ala
NM_133259.3:c.3050A>C	NP_573566.2:p.Glu1017Ala
XM_006711915.2:c.2972A>C	XP_006711978.1:p.Glu991Ala
XM_006711916.2:c.3050A>C	XP_006711979.1:p.Glu1017Ala
XM_011532473.1:c.3050A>C	XP_011530775.1:p.Glu1017Ala
XM_011532474.1:c.3050A>C	XP_011530776.1:p.Glu1017Ala
XM_006711916.3:c.3050A>C	XP_006711979.1:p.Glu1017Ala
XM_017003117.1:c.2972A>C	XP_016858606.1:p.Glu991Ala
XR_002958896.1:n.3092A>C
NM_133259.4:c.3050A>C MANE Select	NP_573566.2:p.Glu1017Ala