Canonical Allele Identifier: CA346668285

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145254T>G (hg19) ; chr2:g.43918115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918115T>G , CM000664.2:g.43918115T>G	GRCh38
NC_000002.11:g.44145254T>G , CM000664.1:g.44145254T>G	GRCh37
NC_000002.10:g.43998758T>G	NCBI36
NG_008247.1:g.82891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.610A>C
ENST00000682295.1:c.303+141A>C	ENSP00000507499.1:n.303+141A>C
ENST00000682303.1:c.*2844A>C	ENSP00000508325.1:n.*2844A>C
ENST00000682308.1:c.3058A>C	ENSP00000507056.1:p.Lys1020Gln
ENST00000682480.1:c.3076A>C	ENSP00000508344.1:p.Lys1026Gln
ENST00000682546.1:c.3055A>C	ENSP00000508188.1:p.Lys1019Gln
ENST00000682585.1:c.3058A>C	ENSP00000506885.1:p.Lys1020Gln
ENST00000682595.1:n.3642A>C
ENST00000682607.1:c.1476A>C
ENST00000682779.1:c.3049A>C	ENSP00000507947.1:p.Lys1017Gln
ENST00000682845.1:n.2160A>C
ENST00000682885.1:c.3013A>C	ENSP00000508036.1:p.Lys1005Gln
ENST00000682933.1:n.3132A>C
ENST00000683072.1:n.3642A>C
ENST00000683080.1:n.677A>C
ENST00000683125.1:c.3166A>C	ENSP00000507939.1:p.Lys1056Gln
ENST00000683213.1:c.3061A>C	ENSP00000507751.1:p.Lys1021Gln
ENST00000683220.1:c.3088A>C	ENSP00000507151.1:p.Lys1030Gln
ENST00000683329.1:n.3861A>C
ENST00000683346.1:c.*2933A>C	ENSP00000507458.1:n.*2933A>C
ENST00000683409.1:n.1665A>C
ENST00000683459.1:n.3645A>C
ENST00000683590.1:c.2897-5557A>C	ENSP00000506820.1:n.2897-5557A>C
ENST00000683623.1:c.2965A>C	ENSP00000507702.1:p.Lys989Gln
ENST00000683645.1:n.3609A>C
ENST00000683796.1:c.*2930A>C	ENSP00000508221.1:n.*2930A>C
ENST00000683802.1:n.5983A>C
ENST00000683833.1:c.3049A>C	ENSP00000506852.1:p.Lys1017Gln
ENST00000683994.1:c.3058A>C	ENSP00000507181.1:p.Lys1020Gln
ENST00000684290.1:c.*594A>C	ENSP00000507243.1:n.*594A>C
ENST00000684306.1:c.*2971A>C	ENSP00000508384.1:n.*2971A>C
ENST00000684341.1:n.3078A>C
ENST00000684383.1:c.*2696A>C	ENSP00000506863.1:n.*2696A>C
ENST00000684619.1:c.*2930A>C	ENSP00000508088.1:n.*2930A>C
ENST00000684705.1:n.179A>C
ENST00000684743.1:n.4089A>C
ENST00000260665.12:c.3058A>C MANE Select	ENSP00000260665.7:p.Lys1020Gln
ENST00000260665.11:c.3058A>C	ENSP00000260665.7:p.Lys1020Gln
NM_133259.3:c.3058A>C	NP_573566.2:p.Lys1020Gln
XM_006711915.2:c.2980A>C	XP_006711978.1:p.Lys994Gln
XM_006711916.2:c.3058A>C	XP_006711979.1:p.Lys1020Gln
XM_011532473.1:c.3058A>C	XP_011530775.1:p.Lys1020Gln
XM_011532474.1:c.3058A>C	XP_011530776.1:p.Lys1020Gln
XM_006711916.3:c.3058A>C	XP_006711979.1:p.Lys1020Gln
XM_017003117.1:c.2980A>C	XP_016858606.1:p.Lys994Gln
XR_002958896.1:n.3100A>C
NM_133259.4:c.3058A>C MANE Select	NP_573566.2:p.Lys1020Gln