Canonical Allele Identifier: CA346676567

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126420T>G (hg19) ; chr2:g.43899281T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899281T>G , CM000664.2:g.43899281T>G	GRCh38
NC_000002.11:g.44126420T>G , CM000664.1:g.44126420T>G	GRCh37
NC_000002.10:g.43979924T>G	NCBI36
NG_008247.1:g.101725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.194A>C
ENST00000472420.6:n.842A>C
ENST00000483489.2:n.194A>C
ENST00000681993.1:n.1315A>C
ENST00000682303.1:c.*3549A>C	ENSP00000508325.1:n.*3549A>C
ENST00000682308.1:c.3763A>C	ENSP00000507056.1:p.Thr1255Pro
ENST00000682434.1:n.1314A>C
ENST00000682480.1:c.3781A>C	ENSP00000508344.1:p.Thr1261Pro
ENST00000682546.1:c.3760A>C	ENSP00000508188.1:p.Thr1254Pro
ENST00000682585.1:c.3763A>C	ENSP00000506885.1:p.Thr1255Pro
ENST00000682595.1:n.4347A>C
ENST00000682607.1:c.2181A>C
ENST00000682612.1:c.615A>C
ENST00000682779.1:c.3754A>C	ENSP00000507947.1:p.Thr1252Pro
ENST00000682845.1:n.2865A>C
ENST00000682885.1:c.3718A>C	ENSP00000508036.1:p.Thr1240Pro
ENST00000682933.1:n.3837A>C
ENST00000683002.1:c.615A>C
ENST00000683072.1:n.4347A>C
ENST00000683080.1:n.1382A>C
ENST00000683125.1:c.3871A>C	ENSP00000507939.1:p.Thr1291Pro
ENST00000683213.1:c.3766A>C	ENSP00000507751.1:p.Thr1256Pro
ENST00000683220.1:c.3793A>C	ENSP00000507151.1:p.Thr1265Pro
ENST00000683329.1:n.4566A>C
ENST00000683346.1:c.*3638A>C	ENSP00000507458.1:n.*3638A>C
ENST00000683409.1:n.2370A>C
ENST00000683459.1:n.4350A>C
ENST00000683528.1:c.691A>C
ENST00000683590.1:c.3511A>C	ENSP00000506820.1:p.Thr1171Pro
ENST00000683623.1:c.3670A>C	ENSP00000507702.1:p.Thr1224Pro
ENST00000683645.1:n.4314A>C
ENST00000683796.1:c.*3635A>C	ENSP00000508221.1:n.*3635A>C
ENST00000683802.1:n.6688A>C
ENST00000683833.1:c.3754A>C	ENSP00000506852.1:p.Thr1252Pro
ENST00000683994.1:c.3763A>C	ENSP00000507181.1:p.Thr1255Pro
ENST00000684290.1:c.*1299A>C	ENSP00000507243.1:n.*1299A>C
ENST00000684306.1:c.*3676A>C	ENSP00000508384.1:n.*3676A>C
ENST00000684341.1:n.3783A>C
ENST00000684383.1:c.*3401A>C	ENSP00000506863.1:n.*3401A>C
ENST00000684418.1:n.4944A>C
ENST00000684433.1:n.147A>C
ENST00000684454.1:n.3113A>C
ENST00000684619.1:c.*3635A>C	ENSP00000508088.1:n.*3635A>C
ENST00000684743.1:n.6508A>C
ENST00000260665.12:c.3763A>C MANE Select	ENSP00000260665.7:p.Thr1255Pro
ENST00000260665.11:c.3763A>C	ENSP00000260665.7:p.Thr1255Pro
ENST00000419884.5:c.4A>C	ENSP00000414207.1:p.Thr2Pro
ENST00000463456.5:n.2806A>C
ENST00000472420.5:n.160A>C
ENST00000483489.1:n.237A>C
NM_133259.3:c.3763A>C	NP_573566.2:p.Thr1255Pro
XM_006711915.2:c.3685A>C	XP_006711978.1:p.Thr1229Pro
XM_011532473.1:c.3763A>C	XP_011530775.1:p.Thr1255Pro
XM_011532474.1:c.3763A>C	XP_011530776.1:p.Thr1255Pro
XM_017003117.1:c.3685A>C	XP_016858606.1:p.Thr1229Pro
XR_002958896.1:n.3805A>C
NM_133259.4:c.3763A>C MANE Select	NP_573566.2:p.Thr1255Pro