Canonical Allele Identifier: CA346668355

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145267C>G (hg19) ; chr2:g.43918128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918128C>G , CM000664.2:g.43918128C>G	GRCh38
NC_000002.11:g.44145267C>G , CM000664.1:g.44145267C>G	GRCh37
NC_000002.10:g.43998771C>G	NCBI36
NG_008247.1:g.82878G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.597G>C
ENST00000682295.1:c.303+128G>C	ENSP00000507499.1:n.303+128G>C
ENST00000682303.1:c.*2831G>C	ENSP00000508325.1:n.*2831G>C
ENST00000682308.1:c.3045G>C	ENSP00000507056.1:p.Trp1015Cys
ENST00000682480.1:c.3063G>C	ENSP00000508344.1:p.Trp1021Cys
ENST00000682546.1:c.3042G>C	ENSP00000508188.1:p.Trp1014Cys
ENST00000682585.1:c.3045G>C	ENSP00000506885.1:p.Trp1015Cys
ENST00000682595.1:n.3629G>C
ENST00000682607.1:c.1463G>C
ENST00000682779.1:c.3036G>C	ENSP00000507947.1:p.Trp1012Cys
ENST00000682845.1:n.2147G>C
ENST00000682885.1:c.3000G>C	ENSP00000508036.1:p.Trp1000Cys
ENST00000682933.1:n.3119G>C
ENST00000683072.1:n.3629G>C
ENST00000683080.1:n.664G>C
ENST00000683125.1:c.3153G>C	ENSP00000507939.1:p.Trp1051Cys
ENST00000683213.1:c.3048G>C	ENSP00000507751.1:p.Trp1016Cys
ENST00000683220.1:c.3075G>C	ENSP00000507151.1:p.Trp1025Cys
ENST00000683329.1:n.3848G>C
ENST00000683346.1:c.*2920G>C	ENSP00000507458.1:n.*2920G>C
ENST00000683409.1:n.1652G>C
ENST00000683459.1:n.3632G>C
ENST00000683590.1:c.2897-5570G>C	ENSP00000506820.1:n.2897-5570G>C
ENST00000683623.1:c.2952G>C	ENSP00000507702.1:p.Trp984Cys
ENST00000683645.1:n.3596G>C
ENST00000683796.1:c.*2917G>C	ENSP00000508221.1:n.*2917G>C
ENST00000683802.1:n.5970G>C
ENST00000683833.1:c.3036G>C	ENSP00000506852.1:p.Trp1012Cys
ENST00000683994.1:c.3045G>C	ENSP00000507181.1:p.Trp1015Cys
ENST00000684290.1:c.*581G>C	ENSP00000507243.1:n.*581G>C
ENST00000684306.1:c.*2958G>C	ENSP00000508384.1:n.*2958G>C
ENST00000684341.1:n.3065G>C
ENST00000684383.1:c.*2683G>C	ENSP00000506863.1:n.*2683G>C
ENST00000684619.1:c.*2917G>C	ENSP00000508088.1:n.*2917G>C
ENST00000684705.1:n.166G>C
ENST00000684743.1:n.4076G>C
ENST00000260665.12:c.3045G>C MANE Select	ENSP00000260665.7:p.Trp1015Cys
ENST00000260665.11:c.3045G>C	ENSP00000260665.7:p.Trp1015Cys
NM_133259.3:c.3045G>C	NP_573566.2:p.Trp1015Cys
XM_006711915.2:c.2967G>C	XP_006711978.1:p.Trp989Cys
XM_006711916.2:c.3045G>C	XP_006711979.1:p.Trp1015Cys
XM_011532473.1:c.3045G>C	XP_011530775.1:p.Trp1015Cys
XM_011532474.1:c.3045G>C	XP_011530776.1:p.Trp1015Cys
XM_006711916.3:c.3045G>C	XP_006711979.1:p.Trp1015Cys
XM_017003117.1:c.2967G>C	XP_016858606.1:p.Trp989Cys
XR_002958896.1:n.3087G>C
NM_133259.4:c.3045G>C MANE Select	NP_573566.2:p.Trp1015Cys