Canonical Allele Identifier: CA346665050

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132882C>G (hg19) ; chr2:g.43905743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905743C>G , CM000664.2:g.43905743C>G	GRCh38
NC_000002.11:g.44132882C>G , CM000664.1:g.44132882C>G	GRCh37
NC_000002.10:g.43986386C>G	NCBI36
NG_008247.1:g.95263G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.392G>C
ENST00000681993.1:n.865G>C
ENST00000682295.1:c.468G>C	ENSP00000507499.1:n.468G>C
ENST00000682303.1:c.*3099G>C	ENSP00000508325.1:n.*3099G>C
ENST00000682308.1:c.3313G>C	ENSP00000507056.1:p.Ala1105Pro
ENST00000682480.1:c.3331G>C	ENSP00000508344.1:p.Ala1111Pro
ENST00000682546.1:c.3310G>C	ENSP00000508188.1:p.Ala1104Pro
ENST00000682585.1:c.3313G>C	ENSP00000506885.1:p.Ala1105Pro
ENST00000682595.1:n.3897G>C
ENST00000682607.1:c.1731G>C
ENST00000682612.1:c.165G>C
ENST00000682779.1:c.3304G>C	ENSP00000507947.1:p.Ala1102Pro
ENST00000682845.1:n.2415G>C
ENST00000682885.1:c.3268G>C	ENSP00000508036.1:p.Ala1090Pro
ENST00000682933.1:n.3387G>C
ENST00000683002.1:c.165G>C
ENST00000683072.1:n.3897G>C
ENST00000683080.1:n.932G>C
ENST00000683125.1:c.3421G>C	ENSP00000507939.1:p.Ala1141Pro
ENST00000683213.1:c.3316G>C	ENSP00000507751.1:p.Ala1106Pro
ENST00000683220.1:c.3343G>C	ENSP00000507151.1:p.Ala1115Pro
ENST00000683329.1:n.4116G>C
ENST00000683346.1:c.*3188G>C	ENSP00000507458.1:n.*3188G>C
ENST00000683409.1:n.1920G>C
ENST00000683459.1:n.3900G>C
ENST00000683528.1:c.165G>C
ENST00000683590.1:c.3061G>C	ENSP00000506820.1:p.Ala1021Pro
ENST00000683623.1:c.3220G>C	ENSP00000507702.1:p.Ala1074Pro
ENST00000683645.1:n.3864G>C
ENST00000683796.1:c.*3185G>C	ENSP00000508221.1:n.*3185G>C
ENST00000683802.1:n.6238G>C
ENST00000683833.1:c.3304G>C	ENSP00000506852.1:p.Ala1102Pro
ENST00000683994.1:c.3313G>C	ENSP00000507181.1:p.Ala1105Pro
ENST00000684290.1:c.*849G>C	ENSP00000507243.1:n.*849G>C
ENST00000684306.1:c.*3226G>C	ENSP00000508384.1:n.*3226G>C
ENST00000684341.1:n.3333G>C
ENST00000684383.1:c.*2951G>C	ENSP00000506863.1:n.*2951G>C
ENST00000684418.1:n.4494G>C
ENST00000684454.1:n.2663G>C
ENST00000684619.1:c.*3185G>C	ENSP00000508088.1:n.*3185G>C
ENST00000684743.1:n.4344G>C
ENST00000260665.12:c.3313G>C MANE Select	ENSP00000260665.7:p.Ala1105Pro
ENST00000260665.11:c.3313G>C	ENSP00000260665.7:p.Ala1105Pro
NM_133259.3:c.3313G>C	NP_573566.2:p.Ala1105Pro
XM_006711915.2:c.3235G>C	XP_006711978.1:p.Ala1079Pro
XM_011532473.1:c.3313G>C	XP_011530775.1:p.Ala1105Pro
XM_011532474.1:c.3313G>C	XP_011530776.1:p.Ala1105Pro
XM_017003117.1:c.3235G>C	XP_016858606.1:p.Ala1079Pro
XR_002958896.1:n.3355G>C
NM_133259.4:c.3313G>C MANE Select	NP_573566.2:p.Ala1105Pro