Canonical Allele Identifier: CA346668302

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145257C>G (hg19) ; chr2:g.43918118C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918118C>G , CM000664.2:g.43918118C>G	GRCh38
NC_000002.11:g.44145257C>G , CM000664.1:g.44145257C>G	GRCh37
NC_000002.10:g.43998761C>G	NCBI36
NG_008247.1:g.82888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.607G>C
ENST00000682295.1:c.303+138G>C	ENSP00000507499.1:n.303+138G>C
ENST00000682303.1:c.*2841G>C	ENSP00000508325.1:n.*2841G>C
ENST00000682308.1:c.3055G>C	ENSP00000507056.1:p.Glu1019Gln
ENST00000682480.1:c.3073G>C	ENSP00000508344.1:p.Glu1025Gln
ENST00000682546.1:c.3052G>C	ENSP00000508188.1:p.Glu1018Gln
ENST00000682585.1:c.3055G>C	ENSP00000506885.1:p.Glu1019Gln
ENST00000682595.1:n.3639G>C
ENST00000682607.1:c.1473G>C
ENST00000682779.1:c.3046G>C	ENSP00000507947.1:p.Glu1016Gln
ENST00000682845.1:n.2157G>C
ENST00000682885.1:c.3010G>C	ENSP00000508036.1:p.Glu1004Gln
ENST00000682933.1:n.3129G>C
ENST00000683072.1:n.3639G>C
ENST00000683080.1:n.674G>C
ENST00000683125.1:c.3163G>C	ENSP00000507939.1:p.Glu1055Gln
ENST00000683213.1:c.3058G>C	ENSP00000507751.1:p.Glu1020Gln
ENST00000683220.1:c.3085G>C	ENSP00000507151.1:p.Glu1029Gln
ENST00000683329.1:n.3858G>C
ENST00000683346.1:c.*2930G>C	ENSP00000507458.1:n.*2930G>C
ENST00000683409.1:n.1662G>C
ENST00000683459.1:n.3642G>C
ENST00000683590.1:c.2897-5560G>C	ENSP00000506820.1:n.2897-5560G>C
ENST00000683623.1:c.2962G>C	ENSP00000507702.1:p.Glu988Gln
ENST00000683645.1:n.3606G>C
ENST00000683796.1:c.*2927G>C	ENSP00000508221.1:n.*2927G>C
ENST00000683802.1:n.5980G>C
ENST00000683833.1:c.3046G>C	ENSP00000506852.1:p.Glu1016Gln
ENST00000683994.1:c.3055G>C	ENSP00000507181.1:p.Glu1019Gln
ENST00000684290.1:c.*591G>C	ENSP00000507243.1:n.*591G>C
ENST00000684306.1:c.*2968G>C	ENSP00000508384.1:n.*2968G>C
ENST00000684341.1:n.3075G>C
ENST00000684383.1:c.*2693G>C	ENSP00000506863.1:n.*2693G>C
ENST00000684619.1:c.*2927G>C	ENSP00000508088.1:n.*2927G>C
ENST00000684705.1:n.176G>C
ENST00000684743.1:n.4086G>C
ENST00000260665.12:c.3055G>C MANE Select	ENSP00000260665.7:p.Glu1019Gln
ENST00000260665.11:c.3055G>C	ENSP00000260665.7:p.Glu1019Gln
NM_133259.3:c.3055G>C	NP_573566.2:p.Glu1019Gln
XM_006711915.2:c.2977G>C	XP_006711978.1:p.Glu993Gln
XM_006711916.2:c.3055G>C	XP_006711979.1:p.Glu1019Gln
XM_011532473.1:c.3055G>C	XP_011530775.1:p.Glu1019Gln
XM_011532474.1:c.3055G>C	XP_011530776.1:p.Glu1019Gln
XM_006711916.3:c.3055G>C	XP_006711979.1:p.Glu1019Gln
XM_017003117.1:c.2977G>C	XP_016858606.1:p.Glu993Gln
XR_002958896.1:n.3097G>C
NM_133259.4:c.3055G>C MANE Select	NP_573566.2:p.Glu1019Gln