Canonical Allele Identifier: CA346665022

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44132873T>G (hg19) ; chr2:g.43905734T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905734T>G , CM000664.2:g.43905734T>G	GRCh38
NC_000002.11:g.44132873T>G , CM000664.1:g.44132873T>G	GRCh37
NC_000002.10:g.43986377T>G	NCBI36
NG_008247.1:g.95272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.401A>C
ENST00000681993.1:n.874A>C
ENST00000682295.1:c.477A>C	ENSP00000507499.1:n.477A>C
ENST00000682303.1:c.*3108A>C	ENSP00000508325.1:n.*3108A>C
ENST00000682308.1:c.3322A>C	ENSP00000507056.1:p.Ser1108Arg
ENST00000682480.1:c.3340A>C	ENSP00000508344.1:p.Ser1114Arg
ENST00000682546.1:c.3319A>C	ENSP00000508188.1:p.Ser1107Arg
ENST00000682585.1:c.3322A>C	ENSP00000506885.1:p.Ser1108Arg
ENST00000682595.1:n.3906A>C
ENST00000682607.1:c.1740A>C
ENST00000682612.1:c.174A>C
ENST00000682779.1:c.3313A>C	ENSP00000507947.1:p.Ser1105Arg
ENST00000682845.1:n.2424A>C
ENST00000682885.1:c.3277A>C	ENSP00000508036.1:p.Ser1093Arg
ENST00000682933.1:n.3396A>C
ENST00000683002.1:c.174A>C
ENST00000683072.1:n.3906A>C
ENST00000683080.1:n.941A>C
ENST00000683125.1:c.3430A>C	ENSP00000507939.1:p.Ser1144Arg
ENST00000683213.1:c.3325A>C	ENSP00000507751.1:p.Ser1109Arg
ENST00000683220.1:c.3352A>C	ENSP00000507151.1:p.Ser1118Arg
ENST00000683329.1:n.4125A>C
ENST00000683346.1:c.*3197A>C	ENSP00000507458.1:n.*3197A>C
ENST00000683409.1:n.1929A>C
ENST00000683459.1:n.3909A>C
ENST00000683528.1:c.174A>C
ENST00000683590.1:c.3070A>C	ENSP00000506820.1:p.Ser1024Arg
ENST00000683623.1:c.3229A>C	ENSP00000507702.1:p.Ser1077Arg
ENST00000683645.1:n.3873A>C
ENST00000683796.1:c.*3194A>C	ENSP00000508221.1:n.*3194A>C
ENST00000683802.1:n.6247A>C
ENST00000683833.1:c.3313A>C	ENSP00000506852.1:p.Ser1105Arg
ENST00000683994.1:c.3322A>C	ENSP00000507181.1:p.Ser1108Arg
ENST00000684290.1:c.*858A>C	ENSP00000507243.1:n.*858A>C
ENST00000684306.1:c.*3235A>C	ENSP00000508384.1:n.*3235A>C
ENST00000684341.1:n.3342A>C
ENST00000684383.1:c.*2960A>C	ENSP00000506863.1:n.*2960A>C
ENST00000684418.1:n.4503A>C
ENST00000684454.1:n.2672A>C
ENST00000684619.1:c.*3194A>C	ENSP00000508088.1:n.*3194A>C
ENST00000684743.1:n.4353A>C
ENST00000260665.12:c.3322A>C MANE Select	ENSP00000260665.7:p.Ser1108Arg
ENST00000260665.11:c.3322A>C	ENSP00000260665.7:p.Ser1108Arg
NM_133259.3:c.3322A>C	NP_573566.2:p.Ser1108Arg
XM_006711915.2:c.3244A>C	XP_006711978.1:p.Ser1082Arg
XM_011532473.1:c.3322A>C	XP_011530775.1:p.Ser1108Arg
XM_011532474.1:c.3322A>C	XP_011530776.1:p.Ser1108Arg
XM_017003117.1:c.3244A>C	XP_016858606.1:p.Ser1082Arg
XR_002958896.1:n.3364A>C
NM_133259.4:c.3322A>C MANE Select	NP_573566.2:p.Ser1108Arg