Canonical Allele Identifier: CA346676716

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126454T>G (hg19) ; chr2:g.43899315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899315T>G , CM000664.2:g.43899315T>G	GRCh38
NC_000002.11:g.44126454T>G , CM000664.1:g.44126454T>G	GRCh37
NC_000002.10:g.43979958T>G	NCBI36
NG_008247.1:g.101691A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.160A>C
ENST00000472420.6:n.808A>C
ENST00000483489.2:n.160A>C
ENST00000681993.1:n.1281A>C
ENST00000682303.1:c.*3515A>C	ENSP00000508325.1:n.*3515A>C
ENST00000682308.1:c.3729A>C	ENSP00000507056.1:p.Arg1243Ser
ENST00000682434.1:n.1280A>C
ENST00000682480.1:c.3747A>C	ENSP00000508344.1:p.Arg1249Ser
ENST00000682546.1:c.3726A>C	ENSP00000508188.1:p.Arg1242Ser
ENST00000682585.1:c.3729A>C	ENSP00000506885.1:p.Arg1243Ser
ENST00000682595.1:n.4313A>C
ENST00000682607.1:c.2147A>C
ENST00000682612.1:c.581A>C
ENST00000682779.1:c.3720A>C	ENSP00000507947.1:p.Arg1240Ser
ENST00000682845.1:n.2831A>C
ENST00000682885.1:c.3684A>C	ENSP00000508036.1:p.Arg1228Ser
ENST00000682933.1:n.3803A>C
ENST00000683002.1:c.581A>C
ENST00000683072.1:n.4313A>C
ENST00000683080.1:n.1348A>C
ENST00000683125.1:c.3837A>C	ENSP00000507939.1:p.Arg1279Ser
ENST00000683213.1:c.3732A>C	ENSP00000507751.1:p.Arg1244Ser
ENST00000683220.1:c.3759A>C	ENSP00000507151.1:p.Arg1253Ser
ENST00000683329.1:n.4532A>C
ENST00000683346.1:c.*3604A>C	ENSP00000507458.1:n.*3604A>C
ENST00000683409.1:n.2336A>C
ENST00000683459.1:n.4316A>C
ENST00000683528.1:c.657A>C
ENST00000683590.1:c.3477A>C	ENSP00000506820.1:p.Arg1159Ser
ENST00000683623.1:c.3636A>C	ENSP00000507702.1:p.Arg1212Ser
ENST00000683645.1:n.4280A>C
ENST00000683796.1:c.*3601A>C	ENSP00000508221.1:n.*3601A>C
ENST00000683802.1:n.6654A>C
ENST00000683833.1:c.3720A>C	ENSP00000506852.1:p.Arg1240Ser
ENST00000683994.1:c.3729A>C	ENSP00000507181.1:p.Arg1243Ser
ENST00000684290.1:c.*1265A>C	ENSP00000507243.1:n.*1265A>C
ENST00000684306.1:c.*3642A>C	ENSP00000508384.1:n.*3642A>C
ENST00000684341.1:n.3749A>C
ENST00000684383.1:c.*3367A>C	ENSP00000506863.1:n.*3367A>C
ENST00000684418.1:n.4910A>C
ENST00000684433.1:n.113A>C
ENST00000684454.1:n.3079A>C
ENST00000684619.1:c.*3601A>C	ENSP00000508088.1:n.*3601A>C
ENST00000684743.1:n.6474A>C
ENST00000260665.12:c.3729A>C MANE Select	ENSP00000260665.7:p.Arg1243Ser
ENST00000260665.11:c.3729A>C	ENSP00000260665.7:p.Arg1243Ser
ENST00000463456.5:n.2772A>C
ENST00000472420.5:n.126A>C
ENST00000483489.1:n.203A>C
NM_133259.3:c.3729A>C	NP_573566.2:p.Arg1243Ser
XM_006711915.2:c.3651A>C	XP_006711978.1:p.Arg1217Ser
XM_011532473.1:c.3729A>C	XP_011530775.1:p.Arg1243Ser
XM_011532474.1:c.3729A>C	XP_011530776.1:p.Arg1243Ser
XM_017003117.1:c.3651A>C	XP_016858606.1:p.Arg1217Ser
XR_002958896.1:n.3771A>C
NM_133259.4:c.3729A>C MANE Select	NP_573566.2:p.Arg1243Ser